(used for variant description)
(last modified December 2, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_020435.3 in the GJC2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011838.1, covering GJC2 transcript NM_020435.3.
(upstream sequence)
. g.4875
gcccccggtcgct c.-301
. . . . . . g.4935
tgctccagggcaggtggactgagcttcggaggctggggctggcctctgacctgcttgggc c.-241
. . . . . . g.4995
ttggagagccctgcccgctgccctgccccccaggacaatcagggattcagaccctgaggc c.-181
. . . . . . g.5055
cgaggggggaacaatggggcccttgagggcccctcctccagcccccattgtgcttggtgg c.-121
. . . . . . g.5115
tgagaggtggccctggctcggccacacaccctcggggaggaccagcatccaagcaggtgg c.-61
. . . . . | 02 . g.12907
aagggctctgagggagactggaattttctggcctggagaag | gacccgcccgcccgcccct c.-1
. . . . . . g.12967
ATGACCAACATGAGCTGGAGCTTCCTGACGCGGCTGCTGGAGGAGATCCACAACCACTCC c.60
M T N M S W S F L T R L L E E I H N H S p.20
. . . . . . g.13027
ACCTTCGTGGGCAAGGTGTGGCTCACGGTGCTGGTGGTCTTCCGCATCGTGCTGACGGCT c.120
T F V G K V W L T V L V V F R I V L T A p.40
. . . . . . g.13087
GTGGGCGGCGAGGCCATCTACTCGGACGAGCAGGCCAAGTTCACTTGCAACACGCGGCAG c.180
V G G E A I Y S D E Q A K F T C N T R Q p.60
. . . . . . g.13147
CCAGGCTGCGACAACGTCTGCTATGACGCCTTCGCGCCCCTGTCGCACGTGCGCTTCTGG c.240
P G C D N V C Y D A F A P L S H V R F W p.80
. . . . . . g.13207
GTCTTCCAGATTGTGGTCATCTCCACGCCCTCGGTCATGTACCTGGGCTACGCCGTGCAC c.300
V F Q I V V I S T P S V M Y L G Y A V H p.100
. . . . . . g.13267
CGCCTGGCCCGTGCGTCTGAGCAGGAGCGGCGCCGCGCCCTCCGCCGCCGCCCGGGGCCA c.360
R L A R A S E Q E R R R A L R R R P G P p.120
. . . . . . g.13327
CGCCGCGCGCCCCGAGCGCACCTGCCGCCCCCGCACGCCGGCTGGCCTGAGCCCGCCGAC c.420
R R A P R A H L P P P H A G W P E P A D p.140
. . . . . . g.13387
CTGGGCGAGGAGGAGCCCATGCTGGGCCTGGGCGAGGAGGAGGAGGAGGAGGAGACGGGG c.480
L G E E E P M L G L G E E E E E E E T G p.160
. . . . . . g.13447
GCAGCCGAGGGCGCCGGCGAGGAAGCGGAGGAGGCAGGCGCGGAGGAGGCGTGCACTAAG c.540
A A E G A G E E A E E A G A E E A C T K p.180
. . . . . . g.13507
GCGGTCGGCGCTGACGGCAAGGCGGCAGGGACCCCGGGCCCGACCGGGCAACACGATGGG c.600
A V G A D G K A A G T P G P T G Q H D G p.200
. . . . . . g.13567
CGGAGGCGCATCCAGCGGGAGGGCCTGATGCGCGTGTACGTGGCCCAGCTGGTGGCCAGG c.660
R R R I Q R E G L M R V Y V A Q L V A R p.220
. . . . . . g.13627
GCAGCTTTCGAGGTGGCCTTCCTGGTGGGCCAGTACCTGCTGTACGGCTTCGAGGTGCGA c.720
A A F E V A F L V G Q Y L L Y G F E V R p.240
. . . . . . g.13687
CCGTTCTTTCCCTGCAGCCGCCAGCCCTGCCCGCACGTGGTGGACTGCTTCGTGTCGCGC c.780
P F F P C S R Q P C P H V V D C F V S R p.260
. . . . . . g.13747
CCTACTGAAAAGACGGTCTTCCTGCTGGTTATGTACGTGGTCAGCTGCCTGTGCCTGCTG c.840
P T E K T V F L L V M Y V V S C L C L L p.280
. . . . . . g.13807
CTCAACCTCTGTGAGATGGCCCACCTGGGCTTGGGCAGCGCGCAGGACGCGGTGCGCGGC c.900
L N L C E M A H L G L G S A Q D A V R G p.300
. . . . . . g.13867
CGCCGCGGCCCCCCGGCCTCCGCCCCCGCCCCCGCGCCGCGGCCCCCGCCCTGCGCCTTC c.960
R R G P P A S A P A P A P R P P P C A F p.320
. . . . . . g.13927
CCTGCGGCGGCCGCTGGCTTGGCCTGCCCGCCCGACTACAGCCTGGTGGTGCGGGCGGCC c.1020
P A A A A G L A C P P D Y S L V V R A A p.340
. . . . . . g.13987
GAGCGCGCTCGGGCGCATGACCAGAACCTGGCAAACCTGGCCCTGCAGGCGCTGCGCGAC c.1080
E R A R A H D Q N L A N L A L Q A L R D p.360
. . . . . . g.14047
GGGGCAGCGGCTGGGGACCGCGACCGGGACAGTTCGCCGTGCGTCGGCCTCCCTGCGGCC c.1140
G A A A G D R D R D S S P C V G L P A A p.380
. . . . . . g.14107
TCCCGGGGGCCCCCCAGAGCAGGCGCCCCCGCGTCCCGGACGGGCAGTGCTACCTCTGCG c.1200
S R G P P R A G A P A S R T G S A T S A p.400
. . . . . . g.14167
GGCACTGTCGGGGAGCAGGGCCGGCCCGGCACCCACGAGCGGCCAGGAGCCAAGCCCAGG c.1260
G T V G E Q G R P G T H E R P G A K P R p.420
. . . . . . g.14227
GCTGGCTCCGAGAAGGGCAGTGCCAGCAGCAGGGACGGGAAGACCACCGTGTGGATCTGA c.1320
A G S E K G S A S S R D G K T T V W I X p.439
. . . . . . g.14287
gggcgctggcttgcgagctgggccagggaggaggagggttggggggctccggtggaaacc c.*60
. . . . . . g.14347
tgcgaccccttctcctcagccttctccttagccggtggcctcaggcagactctgcccaga c.*120
. . . . . . g.14407
ggggcagccaggctgctcagggaaggggctgaaagcggcagaggagtgccctggcttggt c.*180
. . . . . . g.14467
caccactggggccaaggtggggtggagagaggcctaggagccagaaagggccctctgctg c.*240
. . . . . . g.14527
tggtctgaaccccagggggagtggggcattgactccacccctgtcctgagctggaatagg c.*300
. . . . . . g.14587
tcctctgggatgccagctctcccctttgtgcttccctgcagcaacccatggagggcccag c.*360
. . . . . . g.14647
ggtgcctggtatgggcatcagttggtgggggtgcgggggtgcgtgtccccattccctgca c.*420
. . . . . . g.14707
acagcaaatggggctccttcttcagccctccccttcccagccccaaactgagacagactg c.*480
. . . . . . g.14767
ggagctgggagcctggggtggacaggaccataccctctttgagcttctgcgatgccggcc c.*540
. . . . . . g.14827
ttccgttcctctgggaggcttgaagttctgcaaagatgttgatatgccttgcagcttgga c.*600
. . . . . . g.14887
cccaatgggtggtggtcagggcctgggggcttggccatgctgggggaatggggctctggg c.*660
. . . . . . g.14947
ttcctgcctgtggcctgtctgtcctcctccctaattcagacccagcctcaagaggaaagg c.*720
. . g.14975
gagtaaaataaaactaacttgtttataa c.*748
(downstream sequence)
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