Canonical Allele Identifier: CA127026

Gene: GJB2

Linked Data

• ClinVar Variation Id: 17015
• ClinVar RCV Id: RCV000018540
• dbSNP Id: rs104894404
• gnomAD v4: 13-20189406-C-G
• MyVariant Identifiers: chr13:g.20763545C>G (hg19) ; chr13:g.20189406C>G (hg38)
• PubMed: PMID:10633135

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189406C>G , CM000675.2:g.20189406C>G	GRCh38
NC_000013.10:g.20763545C>G , CM000675.1:g.20763545C>G	GRCh37
NC_000013.9:g.19661545C>G	NCBI36
NG_008358.1:g.8570G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.176G>C	ENSP00000372295.1:p.Gly59Ala
ENST00000382848.5:c.176G>C MANE Select	ENSP00000372299.4:p.Gly59Ala
ENST00000382844.1:c.176G>C	ENSP00000372295.1:p.Gly59Ala
ENST00000382848.4:c.176G>C	ENSP00000372299.4:p.Gly59Ala
NM_004004.5:c.176G>C	NP_003995.2:p.Gly59Ala
XM_011535049.1:c.176G>C	XP_011533351.1:p.Gly59Ala
XM_011535049.2:c.176G>C	XP_011533351.1:p.Gly59Ala
NM_004004.6:c.176G>C MANE Select	NP_003995.2:p.Gly59Ala