Canonical Allele Identifier: CA274828

Gene: GJB2

Linked Data

• ClinVar Variation Id: 192228
• ClinVar RCV Id: RCV000172829 ; RCV000909190 ; RCV001257045
• dbSNP Id: rs533231493
• ExAC: 13:20763697 C / T
• gnomAD v2: 13-20763697-C-T
• gnomAD v3: 13-20189558-C-T
• gnomAD v4: 13-20189558-C-T
• COSMIC: COSM3467609
• MyVariant Identifiers: chr13:g.20763697C>T (hg19) ; chr13:g.20189558C>T (hg38)
• PubMed: PMID:23668481

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189558C>T , CM000675.2:g.20189558C>T	GRCh38
NC_000013.10:g.20763697C>T , CM000675.1:g.20763697C>T	GRCh37
NC_000013.9:g.19661697C>T	NCBI36
NG_008358.1:g.8418G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.24G>A	ENSP00000372295.1:p.Thr8=
ENST00000382848.5:c.24G>A MANE Select	ENSP00000372299.4:p.Thr8=
ENST00000382844.1:c.24G>A	ENSP00000372295.1:p.Thr8=
ENST00000382848.4:c.24G>A	ENSP00000372299.4:p.Thr8=
NM_004004.5:c.24G>A	NP_003995.2:p.Thr8=
XM_011535049.1:c.24G>A	XP_011533351.1:p.Thr8=
XM_011535049.2:c.24G>A	XP_011533351.1:p.Thr8=
NM_004004.6:c.24G>A MANE Select	NP_003995.2:p.Thr8=