Canonical Allele Identifier: CA10639105

Gene: GJB2

Linked Data

• ClinVar Variation Id: 311365
• ClinVar RCV Id: RCV000333065 ; RCV000367625 ; RCV000389833
• dbSNP Id: rs564755659
• gnomAD v3: 13-20188357-A-G
• gnomAD v4: 13-20188357-A-G
• MyVariant Identifiers: chr13:g.20762496A>G (hg19) ; chr13:g.20188357A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188357A>G , CM000675.2:g.20188357A>G	GRCh38
NC_000013.10:g.20762496A>G , CM000675.1:g.20762496A>G	GRCh37
NC_000013.9:g.19660496A>G	NCBI36
NG_008358.1:g.9619T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.*544T>C	ENSP00000372295.1:n.*544T>C
ENST00000382848.5:c.*544T>C MANE Select	ENSP00000372299.4:n.*544T>C
ENST00000382844.1:c.*544T>C	ENSP00000372295.1:n.*544T>C
ENST00000382848.4:c.*544T>C	ENSP00000372299.4:n.*544T>C
NM_004004.5:c.*544T>C	NP_003995.2:n.*544T>C
XM_011535049.1:c.*544T>C	XP_011533351.1:n.*544T>C
XM_011535049.2:c.*544T>C	XP_011533351.1:n.*544T>C
NM_004004.6:c.*544T>C MANE Select	NP_003995.2:n.*544T>C