Canonical Allele Identifier: CA172210
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17023
dbSNP Id: rs72474224

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189473C>T , CM000675.2:g.20189473C>T GRCh38
NC_000013.10:g.20763612C>T , CM000675.1:g.20763612C>T GRCh37
NC_000013.9:g.19661612C>T NCBI36
NG_008358.1:g.8503G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.109G>A ENSP00000372295.1:p.Val37Ile
ENST00000382848.5:c.109G>A MANE Select ENSP00000372299.4:p.Val37Ile
ENST00000382844.1:c.109G>A ENSP00000372295.1:p.Val37Ile
ENST00000382848.4:c.109G>A ENSP00000372299.4:p.Val37Ile
NM_004004.5:c.109G>A NP_003995.2:p.Val37Ile
XM_011535049.1:c.109G>A XP_011533351.1:p.Val37Ile
XM_011535049.2:c.109G>A XP_011533351.1:p.Val37Ile
NM_004004.6:c.109G>A MANE Select NP_003995.2:p.Val37Ile