Canonical Allele Identifier: CA342005

Gene: GJB2

Linked Data

• ClinVar Variation Id: 21389
• ClinVar RCV Id: RCV002286406
• dbSNP Id: rs80338941
• ExAC: 13:20763665 C / G
• gnomAD v2: 13-20763665-C-G
• gnomAD v4: 13-20189526-C-G
• COSMIC: COSM4575862
• MyVariant Identifiers: chr13:g.20763665C>G (hg19) ; chr13:g.20189526C>G (hg38)
• ERepo: CA342005/MONDO:0019497/005
• PubMed: PMID:10982180 ; PMID:12176036 ; PMID:15070423 ; PMID:15146474 ; PMID:16077952 ; PMID:16380907 ; PMID:20301449 ; PMID:26188157 ; PMID:26553399

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189526C>G , CM000675.2:g.20189526C>G	GRCh38
NC_000013.10:g.20763665C>G , CM000675.1:g.20763665C>G	GRCh37
NC_000013.9:g.19661665C>G	NCBI36
NG_008358.1:g.8450G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.56G>C	ENSP00000372295.1:p.Ser19Thr
ENST00000382848.5:c.56G>C MANE Select	ENSP00000372299.4:p.Ser19Thr
ENST00000382844.1:c.56G>C	ENSP00000372295.1:p.Ser19Thr
ENST00000382848.4:c.56G>C	ENSP00000372299.4:p.Ser19Thr
NM_004004.5:c.56G>C	NP_003995.2:p.Ser19Thr
XM_011535049.1:c.56G>C	XP_011533351.1:p.Ser19Thr
XM_011535049.2:c.56G>C	XP_011533351.1:p.Ser19Thr
NM_004004.6:c.56G>C MANE Select	NP_003995.2:p.Ser19Thr