Canonical Allele Identifier: CA483153830
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1086912
ClinVar RCV Id: RCV001404832
dbSNP Id: rs1959061331
MyVariant Identifiers: chr13:g.20763532C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189393C>A , CM000675.2:g.20189393C>A GRCh38
NC_000013.10:g.20763532C>A , CM000675.1:g.20763532C>A GRCh37
NC_000013.9:g.19661532C>A NCBI36
NG_008358.1:g.8583G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.189G>T ENSP00000372295.1:p.Val63=
ENST00000382848.5:c.189G>T MANE Select ENSP00000372299.4:p.Val63=
ENST00000382844.1:c.189G>T ENSP00000372295.1:p.Val63=
ENST00000382848.4:c.189G>T ENSP00000372299.4:p.Val63=
NM_004004.5:c.189G>T NP_003995.2:p.Val63=
XM_011535049.1:c.189G>T XP_011533351.1:p.Val63=
XM_011535049.2:c.189G>T XP_011533351.1:p.Val63=
NM_004004.6:c.189G>T MANE Select NP_003995.2:p.Val63=