Canonical Allele Identifier: CA172213
Gene: GJB2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17005
dbSNP Id: rs104894398

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189443C>A , CM000675.2:g.20189443C>A GRCh38
NC_000013.10:g.20763582C>A , CM000675.1:g.20763582C>A GRCh37
NC_000013.9:g.19661582C>A NCBI36
NG_008358.1:g.8533G>T

Transcript Alleles

HGVS Amino-acid change
NM_004004.5:c.139G>T VV NP_003995.2:p.Glu47Ter
XM_011535049.1:c.139G>T XP_011533351.1:p.Glu47Ter
XM_011535049.2:c.139G>T XP_011533351.1:p.Glu47Ter
NM_004004.6:c.139G>T VV MANE Preferred NP_003995.2:p.Glu47Ter
ENST00000382844.1:c.139G>T ENSP00000372295.1:p.Glu47Ter
ENST00000382848.4:c.139G>T ENSP00000372299.4:p.Glu47Ter