Canonical Allele Identifier: CA261635
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44723
dbSNP Id: rs111033296

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189463G>T , CM000675.2:g.20189463G>T GRCh38
NC_000013.10:g.20763602G>T , CM000675.1:g.20763602G>T GRCh37
NC_000013.9:g.19661602G>T NCBI36
NG_008358.1:g.8513C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.119C>A ENSP00000372295.1:p.Ala40Glu
ENST00000382848.5:c.119C>A MANE Select ENSP00000372299.4:p.Ala40Glu
ENST00000382844.1:c.119C>A ENSP00000372295.1:p.Ala40Glu
ENST00000382848.4:c.119C>A ENSP00000372299.4:p.Ala40Glu
NM_004004.5:c.119C>A NP_003995.2:p.Ala40Glu
XM_011535049.1:c.119C>A XP_011533351.1:p.Ala40Glu
XM_011535049.2:c.119C>A XP_011533351.1:p.Ala40Glu
NM_004004.6:c.119C>A MANE Select NP_003995.2:p.Ala40Glu