Canonical Allele Identifier: CA134966
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44745
dbSNP Id: rs111033196

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189202C>T , CM000675.2:g.20189202C>T GRCh38
NC_000013.10:g.20763341C>T , CM000675.1:g.20763341C>T GRCh37
NC_000013.9:g.19661341C>T NCBI36
NG_008358.1:g.8774G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.380G>A ENSP00000372295.1:p.Arg127His
ENST00000382848.5:c.380G>A MANE Select ENSP00000372299.4:p.Arg127His
ENST00000382844.1:c.380G>A ENSP00000372295.1:p.Arg127His
ENST00000382848.4:c.380G>A ENSP00000372299.4:p.Arg127His
NM_004004.5:c.380G>A NP_003995.2:p.Arg127His
XM_011535049.1:c.380G>A XP_011533351.1:p.Arg127His
XM_011535049.2:c.380G>A XP_011533351.1:p.Arg127His
NM_004004.6:c.380G>A MANE Select NP_003995.2:p.Arg127His