(used for mutation description)
(last modified May 2, 2014)
This file was created to facilitate the description of sequence variants in the FANCD2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering FANCD2 transcript NM_033084.3.
(upstream sequence)
. g.1018
ggcctggcgggaaagtcg c.-61
. . . | 02 . . . g.3229
aaaactacgggcggcgacggcttctcg | gaagtaatttaagtgcacaagacattggtcaaa c.-1
. . . . . . g.3289
ATGGTTTCCAAAAGAAGACTGTCAAAATCTGAGGATAAAGAGAGCCTGACAGAAGATGCC c.60
M V S K R R L S K S E D K E S L T E D A p.20
| 03 . . . . . . g.7459
TCCA | AAACCAGGAAGCAACCACTTTCCAAAAAGACAAAGAAATCTCATATTGCTAATGAA c.120
S K | T R K Q P L S K K T K K S H I A N E p.40
. . . . . . g.7519
GTTGAAGAAAATGACAGCATCTTTGTAAAGCTTCTTAAGATATCAGGAATTATTCTTAAA c.180
V E E N D S I F V K L L K I S G I I L K p.60
. . | 04 . . . . g.9075
ACGGGAGAGAGTCAGAATCAACTAG | CTGTGGATCAAATAGCTTTCCAAAAGAAGCTCTTT c.240
T G E S Q N Q L A | V D Q I A F Q K K L F p.80
. . . | 05 . . . g.9293
CAGACCCTGAGGAGACACCCTTCCTATCCCAAA | ATAATAGAAGAATTTGTTAGTGGCCTG c.300
Q T L R R H P S Y P K | I I E E F V S G L p.100
. . . . . . g.9353
GAGTCTTACATTGAGGATGAAGACAGTTTCAGGAACTGCCTTTTGTCTTGTGAGCGTCTG c.360
E S Y I E D E D S F R N C L L S C E R L p.120
. | 06. . . . . g.9787
CAGGATGAGGAAGCCAG | TATGGGTGCATCTTATTCTAAGAGTCTCATCAAACTGCTTCTG c.420
Q D E E A S | M G A S Y S K S L I K L L L p.140
. | 07 . . . . g.10900
GGGATTGACATACTGCAG | CCTGCCATTATCAAAACCTTATTTGAGAAGTTGCCAGAATAT c.480
G I D I L Q | P A I I K T L F E K L P E Y p.160
. | 08 . . . . . g.13899
TTTTTTGAAAA | CAAGAACAGTGATGAAATCAACATACCTCGACTCATTGTCAGTCAACTA c.540
F F E N | K N S D E I N I P R L I V S Q L p.180
. . . | 09 . . . g.14322
AAATGGCTTGACAGAGTTGTGGATGGCAAG | GACCTCACCACCAAGATCATGCAGCTGATC c.600
K W L D R V V D G K | D L T T K I M Q L I p.200
. . . . . . g.14382
AGTATTGCTCCAGAGAACCTGCAGCATGACATCATCACCAGCCTACCTGAGATCCTAGGG c.660
S I A P E N L Q H D I I T S L P E I L G p.220
. . . | 10 . . . g.16219
GATTCCCAGCACGCTGATGTGGGGAAAGAACTCAG | TGACCTACTGATAGAGAATACTTCA c.720
D S Q H A D V G K E L S | D L L I E N T S p.240
. . . . . . g.16279
CTCACTGTCCCAATCCTGGATGTCCTTTCAAGCCTCCGACTTGACCCAAACTTCCTATTG c.780
L T V P I L D V L S S L R L D P N F L L p.260
| 11 . . . . . . g.17187
AAG | GTTCGCCAGTTGGTGATGGATAAGTTGTCGTCTATTAGATTGGAGGATTTACCTGTG c.840
K | V R Q L V M D K L S S I R L E D L P V p.280
. . . . | 12 . g.17633
ATAATAAAGTTCATTCTTCATTCCGTAACAGCCATGGATACACTTGAG | GTAATTTCTGAG c.900
I I K F I L H S V T A M D T L E | V I S E p.300
. . . . . . g.17693
CTTCGGGAGAAGTTGGATCTGCAGCATTGTGTTTTGCCATCACGGTTACAGGCTTCCCAA c.960
L R E K L D L Q H C V L P S R L Q A S Q p.320
. . | 13 . . . g.18086
GTAAAGTTGAAAAGTAAAGGACGAGCAAG | TTCCTCAGGAAATCAAGAAAGCAGCGGTCAG c.1020
V K L K S K G R A S | S S G N Q E S S G Q p.340
. . . . . . g.18146
AGCTGTATTATTCTCCTCTTTGATGTAATAAAGTCAGCTATTAGATATGAGAAAACCATT c.1080
S C I I L L F D V I K S A I R Y E K T I p.360
. | 14 . . . | 15 . g.21157
TCAGAAGCCTGGATTAAG | GCAATTGAAAACACTGCCTCAGTATCTGAACACAAG | GTGTTT c.1140
S E A W I K | A I E N T A S V S E H K | V F p.380
. . . . . . g.21217
GACCTGGTGATGCTTTTCATCATCTATAGCACCAATACTCAGACAAAGAAGTACATTGAC c.1200
D L V M L F I I Y S T N T Q T K K Y I D p.400
. . . . . . g.21277
AGGGTGCTAAGAAATAAGATTCGATCAGGCTGCATTCAAGAACAGCTGCTCCAGAGTACA c.1260
R V L R N K I R S G C I Q E Q L L Q S T p.420
. | 16 . . . . g.22530
TTCTCTGTTCATTACTTA | GTTCTTAAGGATATGTGTTCATCCATTCTGTCGCTGGCTCAG c.1320
F S V H Y L | V L K D M C S S I L S L A Q p.440
. . . . . . g.22590
AGTTTGCTTCACTCTCTAGACCAGAGTATAATTTCATTTGGCAGTCTCCTATACAAATAT c.1380
S L L H S L D Q S I I S F G S L L Y K Y p.460
. . . | 17 . . . g.23972
GCATTTAAGTTTTTTGACACGTACTGCCAGCAG | GAAGTGGTTGGTGCCTTAGTGACCCAT c.1440
A F K F F D T Y C Q Q | E V V G A L V T H p.480
. . . . . . g.24032
ATCTGCAGTGGGAATGAAGCTGAAGTTGATACTGCCTTAGATGTCCTTCTAGAGTTGGTA c.1500
I C S G N E A E V D T A L D V L L E L V p.500
. . . . | 18 . . g.26973
GTGTTAAACCCATCTGCTATGATGATGAATGCTGTCTTTGTAAAG | GGCATTTTAGATTAT c.1560
V L N P S A M M M N A V F V K | G I L D Y p.520
. . . . . . g.27033
CTGGATAACATATCCCCTCAGCAAATACGAAAACTCTTCTATGTTCTCAGCACACTGGCA c.1620
L D N I S P Q Q I R K L F Y V L S T L A p.540
. . . | 19 . . . g.34889
TTTAGCAAACAGAATGAAGCCAGCAGCCACATCCAG | GATGACATGCACTTGGTGATAAGA c.1680
F S K Q N E A S S H I Q | D D M H L V I R p.560
. . . . . . g.34949
AAGCAGCTCTCTAGCACCGTATTCAAGTACAAGCTCATTGGGATTATTGGTGCTGTGACC c.1740
K Q L S S T V F K Y K L I G I I G A V T p.580
. . | 20 . . . . g.36756
ATGGCTGGCATCATGGCGGCAGACAG | AAGTGAATCACCTAGTTTGACCCAAGAGAGAGCC c.1800
M A G I M A A D R | S E S P S L T Q E R A p.600
. . | 21. . . . g.38396
AACCTGAGCGATGAGCAGTGCACACAG | GTGACCTCCTTGTTGCAGTTGGTTCATTCCTGC c.1860
N L S D E Q C T Q | V T S L L Q L V H S C p.620
. . . . . . g.38456
AGTGAGCAGTCTCCTCAGGCCTCTGCACTTTACTATGATGAATTTGCCAACCTGATCCAA c.1920
S E Q S P Q A S A L Y Y D E F A N L I Q p.640
. . | 22. . . . g.38960
CATGAAAAGCTGGATCCAAAAGCCCTG | GAATGGGTTGGGCATACCATCTGTAATGATTTC c.1980
H E K L D P K A L | E W V G H T I C N D F p.660
. . . . | 23 . . g.39319
CAGGATGCCTTCGTAGTGGACTCCTGTGTTGTTCCGGAAGG | TGACTTTCCATTTCCTGTG c.2040
Q D A F V V D S C V V P E G | D F P F P V p.680
. . . . . . g.39379
AAAGCACTGTACGGACTGGAAGAATACGACACTCAGGATGGGATTGCCATAAACCTCCTG c.2100
K A L Y G L E E Y D T Q D G I A I N L L p.700
. . . . . . g.39439
CCGCTGCTGTTTTCTCAGGACTTTGCAAAAGATGGGGGTCCGGTGACCTCACAGGAATCA c.2160
P L L F S Q D F A K D G G P V T S Q E S p.720
| 24 . . . . . g.40017
GGCCAAAA | ATTGGTGTCTCCGCTGTGCCTGGCTCCGTATTTCCGGTTACTGAGACTTTGT c.2220
G Q K | L V S P L C L A P Y F R L L R L C p.740
. . . . | 25 . g.40446
GTGGAGAGACAGCATAACGGAAACTTGGAGGAGATTGATGGTCTACTAG | ATTGTCCTATA c.2280
V E R Q H N G N L E E I D G L L D | C P I p.760
. . . . . . g.40506
TTCCTAACTGACCTGGAGCCTGGAGAGAAGTTGGAGTCCATGTCTGCTAAAGAGCGTTCA c.2340
F L T D L E P G E K L E S M S A K E R S p.780
. . . . | 26 . . g.41795
TTCATGTGTTCTCTCATATTTCTTACTCTCAACTGGTTCCGAGAG | ATTGTAAATGCCTTC c.2400
F M C S L I F L T L N W F R E | I V N A F p.800
. . . . . . g.41855
TGCCAGGAAACATCACCTGAGATGAAGGGGAAGGTGCTCACTCGGTTAAAGCACATTGTA c.2460
C Q E T S P E M K G K V L T R L K H I V p.820
. . . | 27 . . . g.47468
GAATTGCAAATAATCCTGGAAAAGTACTTGGCAG | TCACCCCAGACTATGTCCCTCCTCTT c.2520
E L Q I I L E K Y L A V | T P D Y V P P L p.840
. . . . . . g.47528
GGAAACTTTGATGTGGAAACTTTAGATATAACACCTCATACTGTTACTGCTATTTCAGCA c.2580
G N F D V E T L D I T P H T V T A I S A p.860
. . | 28 . . . . g.47859
AAAATCAGAAAGAAAGGAAAAATAG | AAAGGAAACAAAAAACAGATGGCAGCAAGACATCC c.2640
K I R K K G K I E | R K Q K T D G S K T S p.880
. . . . . . g.47919
TCCTCTGACACACTTTCAGAAGAGAAAAATTCAGAATGTGACCCTACGCCATCTCATAGA c.2700
S S D T L S E E K N S E C D P T P S H R p.900
. | 29 . . . . . g.49146
GGCCAGCTAAACAAG | GAGTTCACAGGGAAGGAAGAAAAGACATCATTGTTACTACATAAT c.2760
G Q L N K | E F T G K E E K T S L L L H N p.920
. . . . . . g.49206
TCCCATGCTTTTTTCCGAGAGCTGGACATTGAGGTCTTCTCTATTCTACATTGTGGACTT c.2820
S H A F F R E L D I E V F S I L H C G L p.940
. . . | 30 . . g.52673
GTGACGAAGTTCATCTTAGATACTGAAATGCACACTGAA | GCTACAGAAGTTGTGCAACTT c.2880
V T K F I L D T E M H T E | A T E V V Q L p.960
. . . . . . g.52733
GGGCCCCCTGAGCTGCTTTTCTTGCTGGAAGATCTCTCCCAGAAGCTGGAGAGTATGCTG c.2940
G P P E L L F L L E D L S Q K L E S M L p.980
. . . | 31 . . . g.55695
ACACCTCCTATTGCCAGGAGAGTCCCCTTTCTCAAG | AACAAAGGAAGCCGGAATATTGGA c.3000
T P P I A R R V P F L K | N K G S R N I G p.1000
. . . . . . g.55755
TTCTCACATCTCCAACAGAGATCTGCCCAAGAAATTGTTCATTGTGTTTTTCAACTGCTG c.3060
F S H L Q Q R S A Q E I V H C V F Q L L p.1020
. . . . | 32 . . g.55932
ACCCCAATGTGTAACCACCTGGAGAACATTCACAACTATTTTCAG | TGTTTAGCTGCTGAG c.3120
T P M C N H L E N I H N Y F Q | C L A A E p.1040
. . . . . . g.55992
AATCACGGTGTAGTTGATGGACCAGGAGTGAAAGTTCAGGAGTACCACATAATGTCTTCC c.3180
N H G V V D G P G V K V Q E Y H I M S S p.1060
. . . . | 33 . . g.60399
TGCTATCAGAGGCTGCTGCAGATTTTTCATGGGCTTTTTGCTTG | GAGTGGATTTTCTCAA c.3240
C Y Q R L L Q I F H G L F A W | S G F S Q p.1080
. . . . . . g.60459
CCTGAAAATCAGAATTTACTGTATTCAGCCCTCCATGTCCTTAGTAGCCGACTGAAACAG c.3300
P E N Q N L L Y S A L H V L S S R L K Q p.1100
. . . | 34 . . . g.61730
GGAGAACACAGCCAGCCTTTGGAGGAACTACTCAG | CCAGAGCGTCCATTACTTGCAGAAT c.3360
G E H S Q P L E E L L S | Q S V H Y L Q N p.1120
. . . . . . g.61790
TTCCATCAAAGCATTCCCAGTTTCCAGTGTGCTCTTTATCTCATCAGACTTTTGATGGTT c.3420
F H Q S I P S F Q C A L Y L I R L L M V p.1140
. . . . | 35 . . g.63034
ATTTTGGAGAAATCAACAGCTTCTGCTCAGAACAAAGAAAAAATTG | CTTCCCTTGCCAGA c.3480
I L E K S T A S A Q N K E K I A | S L A R p.1160
. . . . . . g.63094
CAATTCCTCTGTCGGGTGTGGCCAAGTGGGGATAAAGAGAAGAGCAACATCTCTAATGAC c.3540
Q F L C R V W P S G D K E K S N I S N D p.1180
. . | 36 . . . . g.63439
CAGCTCCATGCTCTGCTCTG | TATCTACCTGGAGCACACAGAGAGCATTCTGAAGGCCATA c.3600
Q L H A L L C | I Y L E H T E S I L K A I p.1200
. . . . . . g.63499
GAGGAGATTGCTGGTGTTGGTGTCCCAGAACTGATCAACTCTCCTAAAGATGCATCTTCC c.3660
E E I A G V G V P E L I N S P K D A S S p.1220
. . | 37 . . . . g.64900
TCCACATTCCCTACACTGACCAG | GCATACTTTTGTTGTTTTCTTCCGTGTGATGATGGCT c.3720
S T F P T L T R | H T F V V F F R V M M A p.1240
. . . . . | 38. g.66755
GAACTAGAGAAGACGGTGAAAAAAATTGAGCCTGGCACAGCAGCAGACTCGCAGCAG | ATT c.3780
E L E K T V K K I E P G T A A D S Q Q | I p.1260
. . . . . . g.66815
CATGAAGAGAAACTCCTCTACTGGAACATGGCTGTTCGAGACTTCAGTATCCTCATCAAC c.3840
H E E K L L Y W N M A V R D F S I L I N p.1280
| 39 . . . | 40 . g.68872
TTGATAAAG | GTATTTGATAGTCATCCTGTTCTGCATGTATGTTTGAAG | TATGGGCGTCTC c.3900
L I K | V F D S H P V L H V C L K | Y G R L p.1300
. . . . . . g.68932
TTTGTGGAAGCATTTCTGAAGCAATGTATGCCGCTCCTAGACTTCAGTTTTAGAAAACAC c.3960
F V E A F L K Q C M P L L D F S F R K H p.1320
| 41 . . . . . . g.69828
CGG | GAAGATGTTCTGAGCTTACTGGAAACCTTCCAGTTGGACACAAGGCTGCTTCATCAC c.4020
R | E D V L S L L E T F Q L D T R L L H H p.1340
. | 42 . . . . g.70939
CTGTGTGGGCATTCCAAG | ATTCACCAGGACACGAGACTCACCCAACATGTGCCTCTGCTC c.4080
L C G H S K | I H Q D T R L T Q H V P L L p.1360
. . . . . . g.70999
AAAAAGACCCTGGAACTTTTAGTTTGCAGAGTCAAAGCTATGCTCACTCTCAACAATTGT c.4140
K K T L E L L V C R V K A M L T L N N C p.1380
. . . . | 43 . . g.73306
AGAGAGGCTTTCTGGCTGGGCAATCTAAAAAACCGGGACTTGCAG | GGTGAAGAGATTAAG c.4200
R E A F W L G N L K N R D L Q | G E E I K p.1400
. . . . . . g.73366
TCCCAAAATTCCCAGGAGAGCACAGCAGATGAGAGTGAGGATGACATGTCATCCCAGGCC c.4260
S Q N S Q E S T A D E S E D D M S S Q A p.1420
. . . . . . g.73426
TCCAAGAGCAAAGCCACTGAGGTATCTCTACAAAACCCACCAGAGTCTGGCACTGATGGT c.4320
S K S K A T E V S L Q N P P E S G T D G p.1440
. . . . . . g.73486
TGCATTTTGTTAATTGTTCTAAGTTGGTGGAGCAGAACTTTGCCTACTTATGTTTATTGT c.4380
C I L L I V L S W W S R T L P T Y V Y C p.1460
. . . g.73522
CAAATGCTTCTATGCCCATTTCCATTCCCTCCATAA c.4416
Q M L L C P F P F P P X p.1471
. . . . . . g.73582
cagcttctgtgcttatataatttttgggacccagaagaaacaacgacacaatcttagaat c.*60
. . . . . . g.73642
cactcctgagtatctcgagttgtggcatttgttatagagttgacaattttctgcattata c.*120
. . . . . . g.73702
gcctctcattttccatgaattcatatctgaaaccattttagaagggagaagtcatcgaag c.*180
. . . . . . g.73762
tattttctgagtgttgagaagaatgagttaaaccatttaaacacatttgaaacatacaaa c.*240
. . . . . . g.73822
aatagaaatgtgaaagcatttggtgaaagccaaagcacagagtcagaagctgccacctta c.*300
. . . . . . g.73882
gagaactgaaataaaaatagaagttcttacgcttttttgtggtacagatgctttcgacaa c.*360
. . . . . . g.73942
tttaaagaaagctaaataaaaatgtagacatggctggcgcagtggctcatgcttgtaatc c.*420
. . . . . . g.74002
ctagcactttttgaggccaaggtaggaggattgcttgagtccgggagctcaaggcaaagc c.*480
. . . . . . g.74062
tgcacaacataacaagaccctatctccacaaaaaaaatgaaaaataaacctgggtgcggt c.*540
. . . . . . g.74122
ggctcacacctgtaatcccagcactttgggaggccgatgtgggcagatcacaaggtcagg c.*600
. . . . . . g.74182
agttcaagaccagcctggccaacatagtgaaaccccatctctactgaaaatacaaaaatt c.*660
. . . . . g.74232
agctgggtgtggtggcacgtgcctgttatctcagctacttgggaggctga c.*710
(downstream sequence)
Legend:
Powered by LOVD v.2.0 Build 34
©2004-2014 Leiden University Medical Center