Canonical Allele Identifier: CA387460951

Gene: GJB2

Linked Data

• ClinVar Variation Id: 550847
• ClinVar RCV Id: RCV000665713 ; RCV001855444
• dbSNP Id: rs28931595
• gnomAD v4: 13-20189047-C-G
• MyVariant Identifiers: chr13:g.20763186C>G (hg19) ; chr13:g.20189047C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189047C>G , CM000675.2:g.20189047C>G	GRCh38
NC_000013.10:g.20763186C>G , CM000675.1:g.20763186C>G	GRCh37
NC_000013.9:g.19661186C>G	NCBI36
NG_008358.1:g.8929G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.535G>C	ENSP00000372295.1:p.Asp179His
ENST00000382848.5:c.535G>C MANE Select	ENSP00000372299.4:p.Asp179His
ENST00000382844.1:c.535G>C	ENSP00000372295.1:p.Asp179His
ENST00000382848.4:c.535G>C	ENSP00000372299.4:p.Asp179His
NM_004004.5:c.535G>C	NP_003995.2:p.Asp179His
XM_011535049.1:c.535G>C	XP_011533351.1:p.Asp179His
XM_011535049.2:c.535G>C	XP_011533351.1:p.Asp179His
NM_004004.6:c.535G>C MANE Select	NP_003995.2:p.Asp179His