Canonical Allele Identifier: CA6904326

Gene: GJB2

Linked Data

• ClinVar Variation Id: 438615
• ClinVar RCV Id: RCV000505534 ; RCV001112642 ; RCV001112643 ; RCV001857232
• dbSNP Id: rs749693224
• ExAC: 13:20763661 A / C
• gnomAD v2: 13-20763661-A-C
• gnomAD v3: 13-20189522-A-C
• gnomAD v4: 13-20189522-A-C
• MyVariant Identifiers: chr13:g.20763661A>C (hg19) ; chr13:g.20189522A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189522A>C , CM000675.2:g.20189522A>C	GRCh38
NC_000013.10:g.20763661A>C , CM000675.1:g.20763661A>C	GRCh37
NC_000013.9:g.19661661A>C	NCBI36
NG_008358.1:g.8454T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.60T>G	ENSP00000372295.1:p.Ile20Met
ENST00000382848.5:c.60T>G MANE Select	ENSP00000372299.4:p.Ile20Met
ENST00000382844.1:c.60T>G	ENSP00000372295.1:p.Ile20Met
ENST00000382848.4:c.60T>G	ENSP00000372299.4:p.Ile20Met
NM_004004.5:c.60T>G	NP_003995.2:p.Ile20Met
XM_011535049.1:c.60T>G	XP_011533351.1:p.Ile20Met
XM_011535049.2:c.60T>G	XP_011533351.1:p.Ile20Met
NM_004004.6:c.60T>G MANE Select	NP_003995.2:p.Ile20Met