Canonical Allele Identifier: CA387460735

Gene: GJB2

Linked Data

• ClinVar Variation Id: 2839828
• ClinVar RCV Id: RCV003716035
• MyVariant Identifiers: chr13:g.20763080A>C (hg19) ; chr13:g.20188941A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188941A>C , CM000675.2:g.20188941A>C	GRCh38
NC_000013.10:g.20763080A>C , CM000675.1:g.20763080A>C	GRCh37
NC_000013.9:g.19661080A>C	NCBI36
NG_008358.1:g.9035T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.641T>G	ENSP00000372295.1:p.Leu214Arg
ENST00000382848.5:c.641T>G MANE Select	ENSP00000372299.4:p.Leu214Arg
ENST00000382844.1:c.641T>G	ENSP00000372295.1:p.Leu214Arg
ENST00000382848.4:c.641T>G	ENSP00000372299.4:p.Leu214Arg
NM_004004.5:c.641T>G	NP_003995.2:p.Leu214Arg
XM_011535049.1:c.641T>G	XP_011533351.1:p.Leu214Arg
XM_011535049.2:c.641T>G	XP_011533351.1:p.Leu214Arg
NM_004004.6:c.641T>G MANE Select	NP_003995.2:p.Leu214Arg