Canonical Allele Identifier: CA483154024
Gene: GJB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.20763658T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189519T>A , CM000675.2:g.20189519T>A GRCh38
NC_000013.10:g.20763658T>A , CM000675.1:g.20763658T>A GRCh37
NC_000013.9:g.19661658T>A NCBI36
NG_008358.1:g.8457A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.63A>T ENSP00000372295.1:p.Gly21=
ENST00000382848.5:c.63A>T MANE Select ENSP00000372299.4:p.Gly21=
ENST00000382844.1:c.63A>T ENSP00000372295.1:p.Gly21=
ENST00000382848.4:c.63A>T ENSP00000372299.4:p.Gly21=
NM_004004.5:c.63A>T NP_003995.2:p.Gly21=
XM_011535049.1:c.63A>T XP_011533351.1:p.Gly21=
XM_011535049.2:c.63A>T XP_011533351.1:p.Gly21=
NM_004004.6:c.63A>T MANE Select NP_003995.2:p.Gly21=