Canonical Allele Identifier: CA387462311
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 550716
dbSNP Id: rs111033293

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189581T>A , CM000675.2:g.20189581T>A GRCh38
NC_000013.10:g.20763720T>A , CM000675.1:g.20763720T>A GRCh37
NC_000013.9:g.19661720T>A NCBI36
NG_008358.1:g.8395A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.1A>T ENSP00000372295.1:p.Met1Leu
ENST00000382848.5:c.1A>T MANE Select ENSP00000372299.4:p.Met1Leu
ENST00000382844.1:c.1A>T ENSP00000372295.1:p.Met1Leu
ENST00000382848.4:c.1A>T ENSP00000372299.4:p.Met1Leu
NM_004004.5:c.1A>T NP_003995.2:p.Met1Leu
XM_011535049.1:c.1A>T XP_011533351.1:p.Met1Leu
XM_011535049.2:c.1A>T XP_011533351.1:p.Met1Leu
NM_004004.6:c.1A>T MANE Select NP_003995.2:p.Met1Leu