(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the CR2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering CR2 transcript NM_001006658.2.
(upstream sequence)
. . . . . g.1059
atttaagggcccgcctctcctggctcacagctgcttgctgctccagccttgccctccca c.-61
. . . . . . g.1119
gagctgccggacgctcgcgggtctcggaacgcatcccgccgcgggggcttcggccgtggc c.-1
. . . . . | 02 g.13228
ATGGGCGCCGCGGGCCTGCTCGGGGTTTTCTTGGCTCTCGTCGCACCGGGGGTCCTCG | GG c.60
M G A A G L L G V F L A L V A P G V L G | p.20
. . . . . . g.13288
ATTTCTTGTGGCTCTCCTCCGCCTATCCTAAATGGCCGGATTAGTTATTATTCTACCCCC c.120
I S C G S P P P I L N G R I S Y Y S T P p.40
. . . . . . g.13348
ATTGCTGTTGGTACCGTGATAAGGTACAGTTGTTCAGGTACCTTCCGCCTCATTGGAGAA c.180
I A V G T V I R Y S C S G T F R L I G E p.60
. . . . . . g.13408
AAAAGTCTATTATGCATAACTAAAGACAAAGTGGATGGAACCTGGGATAAACCTGCTCCT c.240
K S L L C I T K D K V D G T W D K P A P p.80
. . . . . . g.13468
AAATGTGAATATTTCAATAAATATTCTTCTTGCCCTGAGCCCATAGTACCAGGAGGATAC c.300
K C E Y F N K Y S S C P E P I V P G G Y p.100
. . . . . . g.13528
AAAATTAGAGGCTCTACACCCTACAGACATGGTGATTCTGTGACATTTGCCTGTAAAACC c.360
K I R G S T P Y R H G D S V T F A C K T p.120
. . . . . . g.13588
AACTTCTCCATGAACGGAAACAAGTCTGTTTGGTGTCAAGCAAATAATATGTGGGGGCCG c.420
N F S M N G N K S V W C Q A N N M W G P p.140
. . | 03 . . . . g.15262
ACACGACTACCAACCTGTGTAAGTG | TTTTCCCTCTCGAGTGTCCAGCACTTCCTATGATC c.480
T R L P T C V S V | F P L E C P A L P M I p.160
. . . . . . g.15322
CACAATGGACATCACACAAGTGAGAATGTTGGCTCCATTGCTCCAGGATTGTCTGTGACT c.540
H N G H H T S E N V G S I A P G L S V T p.180
. . . . . . g.15382
TACAGCTGTGAATCTGGTTACTTGCTTGTTGGAGAAAAGATCATTAACTGTTTGTCTTCG c.600
Y S C E S G Y L L V G E K I I N C L S S p.200
. . . | 04 . . . g.15526
GGAAAATGGAGTGCTGTCCCCCCCACATGTGAAG | AGGCACGCTGTAAATCTCTAGGACGA c.660
G K W S A V P P T C E E | A R C K S L G R p.220
. . . . . . g.15586
TTTCCCAATGGGAAGGTAAAGGAGCCTCCAATTCTCCGGGTTGGTGTAACTGCAAACTTT c.720
F P N G K V K E P P I L R V G V T A N F p.240
. | 05 . . . . . g.15896
TTCTGTGATGAAGG | GTATCGACTGCAAGGCCCACCTTCTAGTCGGTGTGTAATTGCTGGA c.780
F C D E G | Y R L Q G P P S S R C V I A G p.260
. . . | 06. . . g.16418
CAGGGAGTTGCTTGGACCAAAATGCCAGTATGTGAAG | AAATTTTTTGCCCATCACCTCCC c.840
Q G V A W T K M P V C E E | I F C P S P P p.280
. . . . . . g.16478
CCTATTCTCAATGGAAGACATATAGGCAACTCACTAGCAAATGTCTCATATGGAAGCATA c.900
P I L N G R H I G N S L A N V S Y G S I p.300
. . . . . . g.16538
GTCACTTACACTTGTGACCCGGACCCAGAGGAAGGAGTGAACTTCATCCTTATTGGAGAG c.960
V T Y T C D P D P E E G V N F I L I G E p.320
. . . . . . g.16598
AGCACTCTCCGTTGTACAGTTGATAGTCAGAAGACTGGGACCTGGAGTGGCCCTGCCCCA c.1020
S T L R C T V D S Q K T G T W S G P A P p.340
. . . . . . g.16658
CGCTGTGAACTTTCTACTTCTGCGGTTCAGTGTCCACATCCCCAGATCCTAAGAGGCCGA c.1080
R C E L S T S A V Q C P H P Q I L R G R p.360
. . . . . . g.16718
ATGGTATCTGGGCAGAAAGATCGATATACCTATAACGACACTGTGATATTTGCTTGCATG c.1140
M V S G Q K D R Y T Y N D T V I F A C M p.380
. . . . . . g.16778
TTTGGCTTCACCTTGAAGGGCAGCAAGCAAATCCGATGCAATGCCCAAGGCACATGGGAG c.1200
F G F T L K G S K Q I R C N A Q G T W E p.400
. . | 07 . . . . g.17475
CCATCTGCACCAGTCTGTGAAAAGG | AATGCCAGGCCCCTCCTAACATCCTCAATGGGCAA c.1260
P S A P V C E K E | C Q A P P N I L N G Q p.420
. . . . . . g.17535
AAGGAAGATAGACACATGGTCCGCTTTGACCCTGGAACATCTATAAAATATAGCTGTAAC c.1320
K E D R H M V R F D P G T S I K Y S C N p.440
. . . . . . g.17595
CCTGGCTATGTGCTGGTGGGAGAAGAATCCATACAGTGTACCTCTGAGGGGGTGTGGACA c.1380
P G Y V L V G E E S I Q C T S E G V W T p.460
. . | 08 . . . . g.17735
CCCCCTGTACCCCAATGCAAAG | TGGCAGCGTGTGAAGCTACAGGAAGGCAACTCTTGACA c.1440
P P V P Q C K V | A A C E A T G R Q L L T p.480
. . . . . | 09 . g.18130
AAACCCCAGCACCAATTTGTTAGACCAGATGTCAACTCTTCTTGTGGTGAAGG | GTACAAG c.1500
K P Q H Q F V R P D V N S S C G E G | Y K p.500
. . . . . . g.18190
TTAAGTGGGAGTGTTTATCAGGAGTGTCAAGGCACAATTCCTTGGTTTATGGAGATTCGT c.1560
L S G S V Y Q E C Q G T I P W F M E I R p.520
. | 10 . . . . . g.19522
CTTTGTAAAG | AAATCACCTGCCCACCACCCCCTGTTATCTACAATGGGGCACACACCGGG c.1620
L C K E | I T C P P P P V I Y N G A H T G p.540
. . . . . . g.19582
AGTTCCTTAGAAGATTTTCCATATGGAACCACGGTCACTTACACATGTAACCCTGGGCCA c.1680
S S L E D F P Y G T T V T Y T C N P G P p.560
. . . . . . g.19642
GAAAGAGGAGTGGAATTCAGCCTCATTGGAGAGAGCACCATCCGTTGTACAAGCAATGAT c.1740
E R G V E F S L I G E S T I R C T S N D p.580
. . . . . . g.19702
CAAGAAAGAGGCACCTGGAGTGGCCCTGCTCCCCTGTGTAAACTTTCCCTCCTTGCTGTC c.1800
Q E R G T W S G P A P L C K L S L L A V p.600
. . . . . . g.19762
CAGTGCTCACATGTCCATATTGCAAATGGATACAAGATATCTGGCAAGGAAGCCCCATAT c.1860
Q C S H V H I A N G Y K I S G K E A P Y p.620
. . . . . . g.19822
TTCTACAATGACACTGTGACATTCAAGTGTTATAGTGGATTTACTTTGAAGGGCAGTAGT c.1920
F Y N D T V T F K C Y S G F T L K G S S p.640
. . . . . | 11 g.20247
CAGATTCGTTGCAAAGCTGATAACACCTGGGATCCTGAAATACCAGTTTGTGAAAAAG | GC c.1980
Q I R C K A D N T W D P E I P V C E K G | p.660
. . . . . . g.20307
TGCCAGTCACCTCCTGGGCTCCACCATGGTCGTCATACAGGTGGAAATACGGTCTTCTTT c.2040
C Q S P P G L H H G R H T G G N T V F F p.680
. . . . . . g.20367
GTCTCTGGGATGACTGTAGACTACACTTGTGACCCTGGCTATTTGCTTGTGGGAAACAAA c.2100
V S G M T V D Y T C D P G Y L L V G N K p.700
. . . . . | 12 . g.20506
TCCATTCACTGTATGCCTTCAGGAAATTGGAGTCCTTCTGCCCCACGGTGTGAAG | AAACA c.2160
S I H C M P S G N W S P S A P R C E E | T p.720
. . . . . . g.20566
TGCCAGCATGTGAGACAGAGTCTTCAAGAACTTCCAGCTGGTTCACGTGTGGAGCTAGTT c.2220
C Q H V R Q S L Q E L P A G S R V E L V p.740
. . | 13 . . . . g.20981
AATACGTCCTGCCAAGATGG | GTACCAGTTGACTGGACATGCTTATCAGATGTGTCAAGAT c.2280
N T S C Q D G | Y Q L T G H A Y Q M C Q D p.760
. . . . | 14 . . g.21541
GCTGAAAATGGAATTTGGTTCAAAAAGATTCCACTTTGTAAAG | TTATTCACTGTCACCCT c.2340
A E N G I W F K K I P L C K V | I H C H P p.780
. . . . . . g.21601
CCACCAGTGATTGTCAATGGGAAGCACACAGGCATGATGGCAGAAAACTTTCTATATGGA c.2400
P P V I V N G K H T G M M A E N F L Y G p.800
. . . . . . g.21661
AATGAAGTCTCTTATGAATGTGACCAAGGATTCTATCTCCTGGGAGAGAAAAAATTGCAG c.2460
N E V S Y E C D Q G F Y L L G E K K L Q p.820
. . . . . . g.21721
TGCAGAAGTGATTCTAAAGGACATGGATCTTGGAGCGGGCCTTCCCCACAGTGCTTACGA c.2520
C R S D S K G H G S W S G P S P Q C L R p.840
. . . . . . g.21781
TCTCCTCCTGTGACTCGCTGCCCTAATCCAGAAGTCAAACATGGGTACAAGCTCAATAAA c.2580
S P P V T R C P N P E V K H G Y K L N K p.860
. . . . . . g.21841
ACACATTCTGCATATTCCCACAATGACATAGTGTATGTTGACTGCAATCCTGGCTTCATC c.2640
T H S A Y S H N D I V Y V D C N P G F I p.880
. . . . . . g.21901
ATGAATGGTAGTCGCGTGATTAGGTGTCATACTGATAACACATGGGTGCCAGGTGTGCCA c.2700
M N G S R V I R C H T D N T W V P G V P p.900
. | 15 . . . . . g.22978
ACTTGTATCAAAAAAG | CCTTCATAGGGTGTCCACCTCCGCCTAAGACCCCTAACGGGAAC c.2760
T C I K K A | F I G C P P P P K T P N G N p.920
. . . . . . g.23038
CATACTGGTGGAAACATAGCTCGATTTTCTCCTGGAATGTCAATCCTGTACAGCTGTGAC c.2820
H T G G N I A R F S P G M S I L Y S C D p.940
. . . . . . g.23098
CAAGGCTACCTGCTGGTGGGAGAGGCACTCCTTCTTTGCACACATGAGGGAACCTGGAGC c.2880
Q G Y L L V G E A L L L C T H E G T W S p.960
. . | 16 . . . . g.24623
CAACCTGCCCCTCATTGTAAAG | AGGTAAACTGTAGCTCACCAGCAGATATGGATGGAATC c.2940
Q P A P H C K E | V N C S S P A D M D G I p.980
. . . . . . g.24683
CAGAAAGGGCTGGAACCAAGGAAAATGTATCAGTATGGAGCTGTTGTAACTCTGGAGTGT c.3000
Q K G L E P R K M Y Q Y G A V V T L E C p.1000
. . . . . . g.24743
GAAGATGGGTATATGCTGGAAGGCAGTCCCCAGAGCCAGTGCCAATCGGATCACCAATGG c.3060
E D G Y M L E G S P Q S Q C Q S D H Q W p.1020
. . | 17 . . | 18 . g.26686
AACCCTCCCCTGGCGGTTTGCAGATCCC | GTTCACTTGCTCCTGTCCTTTGTG | GTATTGCT c.3120
N P P L A V C R S R | S L A P V L C G | I A p.1040
. . . . . . g.26746
GCAGGTTTGATACTTCTTACCTTCTTGATTGTCATTACCTTATACGTGATATCAAAACAC c.3180
A G L I L L T F L I V I T L Y V I S K H p.1060
| 19 . . . . . g.32216
AGAGCACG | CAATTATTATACAGATACAAGCCAGAAAGAAGCTTTTCATTTAGAAGCACGA c.3240
R A R | N Y Y T D T S Q K E A F H L E A R p.1080
. . . g.32255
GAAGTATATTCTGTTGATCCATACAACCCAGCCAGCTGA | c.3280
E V Y S V D P Y N P A S X p.1092
. | 20 . . . . g.35884
tcagaagacaaactggtg | tgtgcctcattgcttggaattcagcggaatattgattagaaa c.*60
. . . . . . g.35944
gaaactgctctaatatcagcaagtctctttatatggcctcaagatcaatgaaatgatgtc c.*120
. . . . . . g.36004
ataagcgatcacttcctatatgcacttattctcaagaagaacatctttatggtaaagatg c.*180
. . . . . . g.36064
ggagcccagtttcactgccatatactcttcaaggactttctgaagcctcacttatgagat c.*240
. . . . . . g.36124
gcctgaagccaggccatggctataaacaattacatggctctaaaaagttttgcccttttt c.*300
. . . . . . g.36184
aaggaaggcactaaaaagagctgtcctggtatctagacccatcttctttttgaaatcagc c.*360
. . . . . . g.36244
atactcaatgttactatctgcttttggttataatgtgtttttaattatctaaagtatgaa c.*420
. . . . . . g.36304
gcattttctggggttatgatggctttacctttattaggaagtatggttttattttgatag c.*480
. . . . . . g.36364
tagcttcctcctctggtggtgttaatcatttcatttttacccttacttggtttgagtttc c.*540
. . . . . . g.36424
tctcacattactgtatatactttgcctttccataatcactcagtgattgcaatttgcaca c.*600
. . . . . . g.36484
agtttttttaaattatgggaatcaagatttaatcctagagatttggtgtacaattcaggc c.*660
. . . . . . g.36544
tttggatgtttctttagcagttttgtgataagttctagttgcttgtaaaatttcacttaa c.*720
. . . . . g.36596
taatgtgtacattagtcattcaataaattgtaattgtaaagaaaacatacaa c.*772
(downstream sequence)
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