(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the FCGR2A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering FCGR2A transcript NM_021642.3.(upstream sequence) . . . . . g.1053 ctcttttctaagcttgtctcttaaaacccactggacgttggcacagtgctggg c.-1 . . . . . . g.1113 ATGACTATGGAGACCCAAATGTCTCAGAATGTATGTCCCAGAAACCTGTGGCTGCTTCAA c.60 M T M E T Q M S Q N V C P R N L W L L Q p.20 . . | 02 . . | 03 . . g.1936 CCATTGACAGTTTTGCTGCTGCTGG | CTTCTGCAGACAGTCAAGCTG | CTCCCCCAAAGGCT c.120 P L T V L L L L A | S A D S Q A A | P P K A p.40 . . . . . . g.1996 GTGCTGAAACTTGAGCCCCCGTGGATCAACGTGCTCCAGGAGGACTCTGTGACTCTGACA c.180 V L K L E P P W I N V L Q E D S V T L T p.60 . . . . . . g.2056 TGCCAGGGGGCTCGCAGCCCTGAGAGCGACTCCATTCAGTGGTTCCACAATGGGAATCTC c.240 C Q G A R S P E S D S I Q W F H N G N L p.80 . . . . . . g.2116 ATTCCCACCCACACGCAGCCCAGCTACAGGTTCAAGGCCAACAACAATGACAGCGGGGAG c.300 I P T H T Q P S Y R F K A N N N D S G E p.100 . . . . . . g.2176 TACACGTGCCAGACTGGCCAGACCAGCCTCAGCGACCCTGTGCATCTGACTGTGCTTTCC c.360 Y T C Q T G Q T S L S D P V H L T V L S p.120 | 04 . . . . . . g.5464 G | AATGGCTGGTGCTCCAGACCCCTCACCTGGAGTTCCAGGAGGGAGAAACCATCATGCTG c.420 E | W L V L Q T P H L E F Q E G E T I M L p.140 . . . . . . g.5524 AGGTGCCACAGCTGGAAGGACAAGCCTCTGGTCAAGGTCACATTCTTCCAGAATGGAAAA c.480 R C H S W K D K P L V K V T F F Q N G K p.160 . . . . . . g.5584 TCCCAGAAATTCTCCCATTTGGATCCCACCTTCTCCATCCCACAAGCAAACCACAGTCAC c.540 S Q K F S H L D P T F S I P Q A N H S H p.180 . . . . . . g.5644 AGTGGTGATTACCACTGCACAGGAAACATAGGCTACACGCTGTTCTCATCCAAGCCTGTG c.600 S G D Y H C T G N I G Y T L F S S K P V p.200 . | 05 . . . . . g.6463 ACCATCACTGTCCAAG | TGCCCAGCATGGGCAGCTCTTCACCAATGGGGATCATTGTGGCT c.660 T I T V Q V | P S M G S S S P M G I I V A p.220 . . . . . . g.6523 GTGGTCATTGCGACTGCTGTAGCAGCCATTGTTGCTGCTGTAGTGGCCTTGATCTACTGC c.720 V V I A T A V A A I V A A V V A L I Y C p.240 . | 06 . . . | 07. g.13563 AGGAAAAAGCGGATTTCAG | CCAATTCCACTGATCCTGTGAAGGCTGCCCAATTTGAG | CCA c.780 R K K R I S A | N S T D P V K A A Q F E | P p.260 . . . . . . g.13623 CCTGGACGTCAAATGATTGCCATCAGAAAGAGACAACTTGAAGAAACCAACAATGACTAT c.840 P G R Q M I A I R K R Q L E E T N N D Y p.280 . . . . . . g.13683 GAAACAGCTGACGGCGGCTACATGACTCTGAACCCCAGGGCACCTACTGACGATGATAAA c.900 E T A D G G Y M T L N P R A P T D D D K p.300 . . . . . g.13734 AACATCTACCTGACTCTTCCTCCCAACGACCATGTCAACAGTAATAACTAA c.951 N I Y L T L P P N D H V N S N N X p.316 . . . . . . g.13794 agagtaacgttatgccatgtggtcatactctcagcttgctgagtggatgacaaaaagagg c.*60 . . . . . . g.13854 ggaattgttaaaggaaaatttaaatggagactggaaaaatcctgagcaaacaaaaccacc c.*120 . . . . . . g.13914 tggcccttagaaatagctttaactttgcttaaactacaaacacaagcaaaacttcacggg c.*180 . . . . . . g.13974 gtcatactacatacaagcataagcaaaacttaacttggatcatttctggtaaatgcttat c.*240 . . . . . . g.14034 gttagaaataagacaaccccagccaatcacaagcagcctactaacatataattaggtgac c.*300 . . . . . . g.14094 tagggactttctaagaagatacctacccccaaaaaacaattatgtaattgaaaaccaacc c.*360 . . . . . . g.14154 gattgcctttattttgcttccacattttcccaataaatacttgcctgtgacattttgcca c.*420 . . . . . . g.14214 ctggaacactaaacttcatgaattgcgcctcagatttttcctttaacatctttttttttt c.*480 . . . . . . g.14274 ttgacagagtctcaatctgttacccaggctggagtgcagtggtgctatcttggctcactg c.*540 . . . . . . g.14334 caaacccgcctcccaggtttaagcgattctcatgcctcagcctcccagtagctgggatta c.*600 . . . . . . g.14394 gaggcatgtgccatcatacccagctaatttttgtattttttattttttttttttagtaga c.*660 . . . . . . g.14454 gacagggtttcgcaatgttggccaggccgatctcgaacttctggcctctagcgatctgcc c.*720 . . . . . . g.14514 cgcctcggcctcccaaagtgctgggatgaccagcatcagccccaatgtccagcctcttta c.*780 . . . . . . g.14574 acatcttctttcctatgccctctctgtggatccctactgctggtttctgccttctccatg c.*840 . . . . . . g.14634 ctgagaacaaaatcacctattcactgcttatgcagtcggaagctccagaagaacaaagag c.*900 . . . . . . g.14694 cccaattaccagaaccacattaagtctccattgttttgccttgggatttgagaagagaat c.*960 . . . . . . g.14754 tagagaggtgaggatctggtatttcctggactaaattccccttggggaagacgaagggat c.*1020 . . . . . . g.14814 gctgcagttccaaaagagaaggactcttccagagtcatctacctgagtcccaaagctccc c.*1080 . . . . . . g.14874 tgtcctgaaagccacagacaatatggtcccaaatgactgactgcaccttctgtgcctcag c.*1140 . . . . . . g.14934 ccgttcttgacatcaagaatcttctgttccacatccacacagccaatacaattagtcaaa c.*1200 . . . . . . g.14994 ccactgttattaacagatgtagcaacatgagaaacgcttatgttacaggttacatgagag c.*1260 . . . . . . g.15054 caatcatgtaagtctatatgacttcagaaatgttaaaatagactaacctctaacaacaaa c.*1320 . . . . . . g.15114 ttaaaagtgattgtttcaaggtgatgcaattattgatgacctattttatttttctataat c.*1380 . . . . g.15156 gatcatatattacctttgtaataaaacattataaccaaaaca c.*1422 (downstream sequence)Legend:
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