Canonical Allele Identifier: CA274346
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 189070
dbSNP Id: rs773528125

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189071_20189074dup , CM000675.2:g.20189071_20189074dup GRCh38
NC_000013.10:g.20763210_20763213dup , CM000675.1:g.20763210_20763213dup GRCh37
NC_000013.9:g.19661210_19661213dup NCBI36
NG_008358.1:g.8902_8905dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.508_511dup ENSP00000372295.1:p.Ala171GlufsTer?
ENST00000382848.5:c.508_511dup MANE Select ENSP00000372299.4:p.Ala171GlufsTer?
ENST00000382844.1:c.508_511dup ENSP00000372295.1:p.Ala171GlufsTer?
ENST00000382848.4:c.508_511dup ENSP00000372299.4:p.Ala171GlufsTer?
NM_004004.5:c.508_511dup NP_003995.2:p.Ala171GlufsTer?
XM_011535049.1:c.508_511dup XP_011533351.1:p.Ala171GlufsTer?
XM_011535049.2:c.508_511dup XP_011533351.1:p.Ala171GlufsTer?
NM_004004.6:c.508_511dup MANE Select NP_003995.2:p.Ala171GlufsTer?