Canonical Allele Identifier: CA387460768

Gene: GJB2

Linked Data

• dbSNP Id: rs1036073348
• gnomAD v2: 13-20763093-A-C
• gnomAD v4: 13-20188954-A-C
• MyVariant Identifiers: chr13:g.20763093A>C (hg19) ; chr13:g.20188954A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188954A>C , CM000675.2:g.20188954A>C	GRCh38
NC_000013.10:g.20763093A>C , CM000675.1:g.20763093A>C	GRCh37
NC_000013.9:g.19661093A>C	NCBI36
NG_008358.1:g.9022T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.628T>G	ENSP00000372295.1:p.Leu210Val
ENST00000382848.5:c.628T>G MANE Select	ENSP00000372299.4:p.Leu210Val
ENST00000382844.1:c.628T>G	ENSP00000372295.1:p.Leu210Val
ENST00000382848.4:c.628T>G	ENSP00000372299.4:p.Leu210Val
NM_004004.5:c.628T>G	NP_003995.2:p.Leu210Val
XM_011535049.1:c.628T>G	XP_011533351.1:p.Leu210Val
XM_011535049.2:c.628T>G	XP_011533351.1:p.Leu210Val
NM_004004.6:c.628T>G MANE Select	NP_003995.2:p.Leu210Val