Canonical Allele Identifier: CA10639103

Gene: GJB2

Linked Data

• ClinVar Variation Id: 311359
• ClinVar RCV Id: RCV000306675 ; RCV000404244 ; RCV000404968
• dbSNP Id: rs537683957
• gnomAD v2: 13-20762024-T-C
• gnomAD v3: 13-20187885-T-C
• gnomAD v4: 13-20187885-T-C
• MyVariant Identifiers: chr13:g.20762024T>C (hg19) ; chr13:g.20187885T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20187885T>C , CM000675.2:g.20187885T>C	GRCh38
NC_000013.10:g.20762024T>C , CM000675.1:g.20762024T>C	GRCh37
NC_000013.9:g.19660024T>C	NCBI36
NG_008358.1:g.10091A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.*1016A>G	ENSP00000372295.1:n.*1016A>G
ENST00000382848.5:c.*1016A>G MANE Select	ENSP00000372299.4:n.*1016A>G
ENST00000382844.1:c.*1016A>G	ENSP00000372295.1:n.*1016A>G
ENST00000382848.4:c.*1016A>G	ENSP00000372299.4:n.*1016A>G
NM_004004.5:c.*1016A>G	NP_003995.2:n.*1016A>G
XM_011535049.1:c.*1016A>G	XP_011533351.1:n.*1016A>G
XM_011535049.2:c.*1016A>G	XP_011533351.1:n.*1016A>G
NM_004004.6:c.*1016A>G MANE Select	NP_003995.2:n.*1016A>G