Canonical Allele Identifier: CA387461648

Gene: GJB2

Linked Data

• ClinVar Variation Id: 631698
• ClinVar RCV Id: RCV000778388 ; RCV001231552 ; RCV001835954
• dbSNP Id: rs763572195
• gnomAD v4: 13-20189387-G-C
• MyVariant Identifiers: chr13:g.20763526G>C (hg19) ; chr13:g.20189387G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189387G>C , CM000675.2:g.20189387G>C	GRCh38
NC_000013.10:g.20763526G>C , CM000675.1:g.20763526G>C	GRCh37
NC_000013.9:g.19661526G>C	NCBI36
NG_008358.1:g.8589C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.195C>G	ENSP00000372295.1:p.Tyr65Ter
ENST00000382848.5:c.195C>G MANE Select	ENSP00000372299.4:p.Tyr65Ter
ENST00000382844.1:c.195C>G	ENSP00000372295.1:p.Tyr65Ter
ENST00000382848.4:c.195C>G	ENSP00000372299.4:p.Tyr65Ter
NM_004004.5:c.195C>G	NP_003995.2:p.Tyr65Ter
XM_011535049.1:c.195C>G	XP_011533351.1:p.Tyr65Ter
XM_011535049.2:c.195C>G	XP_011533351.1:p.Tyr65Ter
NM_004004.6:c.195C>G MANE Select	NP_003995.2:p.Tyr65Ter