Canonical Allele Identifier: CA134997
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 36279
dbSNP Id: rs2274084

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189503C>T , CM000675.2:g.20189503C>T GRCh38
NC_000013.10:g.20763642C>T , CM000675.1:g.20763642C>T GRCh37
NC_000013.9:g.19661642C>T NCBI36
NG_008358.1:g.8473G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.79G>A ENSP00000372295.1:p.Val27Ile
ENST00000382848.5:c.79G>A MANE Select ENSP00000372299.4:p.Val27Ile
ENST00000382844.1:c.79G>A ENSP00000372295.1:p.Val27Ile
ENST00000382848.4:c.79G>A ENSP00000372299.4:p.Val27Ile
NM_004004.5:c.79G>A NP_003995.2:p.Val27Ile
XM_011535049.1:c.79G>A XP_011533351.1:p.Val27Ile
XM_011535049.2:c.79G>A XP_011533351.1:p.Val27Ile
NM_004004.6:c.79G>A MANE Select NP_003995.2:p.Val27Ile