Canonical Allele Identifier: CA10633960

Gene: GJB2

Linked Data

• ClinVar Variation Id: 311370
• ClinVar RCV Id: RCV000265500 ; RCV000335944 ; RCV000380087
• dbSNP Id: rs182085649
• gnomAD v2: 13-20762926-A-G
• gnomAD v3: 13-20188787-A-G
• gnomAD v4: 13-20188787-A-G
• MyVariant Identifiers: chr13:g.20762926A>G (hg19) ; chr13:g.20188787A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188787A>G , CM000675.2:g.20188787A>G	GRCh38
NC_000013.10:g.20762926A>G , CM000675.1:g.20762926A>G	GRCh37
NC_000013.9:g.19660926A>G	NCBI36
NG_008358.1:g.9189T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.*114T>C	ENSP00000372295.1:n.*114T>C
ENST00000382848.5:c.*114T>C MANE Select	ENSP00000372299.4:n.*114T>C
ENST00000382844.1:c.*114T>C	ENSP00000372295.1:n.*114T>C
ENST00000382848.4:c.*114T>C	ENSP00000372299.4:n.*114T>C
NM_004004.5:c.*114T>C	NP_003995.2:n.*114T>C
XM_011535049.1:c.*114T>C	XP_011533351.1:n.*114T>C
XM_011535049.2:c.*114T>C	XP_011533351.1:n.*114T>C
NM_004004.6:c.*114T>C MANE Select	NP_003995.2:n.*114T>C