Canonical Allele Identifier: CA483153744

Gene: GJB2

Linked Data

• ClinVar Variation Id: 2847634
• ClinVar RCV Id: RCV003692863
• MyVariant Identifiers: chr13:g.20763418C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189279C>T , CM000675.2:g.20189279C>T	GRCh38
NC_000013.10:g.20763418C>T , CM000675.1:g.20763418C>T	GRCh37
NC_000013.9:g.19661418C>T	NCBI36
NG_008358.1:g.8697G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.303G>A	ENSP00000372295.1:p.Glu101=
ENST00000382848.5:c.303G>A MANE Select	ENSP00000372299.4:p.Glu101=
ENST00000382844.1:c.303G>A	ENSP00000372295.1:p.Glu101=
ENST00000382848.4:c.303G>A	ENSP00000372299.4:p.Glu101=
NM_004004.5:c.303G>A	NP_003995.2:p.Glu101=
XM_011535049.1:c.303G>A	XP_011533351.1:p.Glu101=
XM_011535049.2:c.303G>A	XP_011533351.1:p.Glu101=
NM_004004.6:c.303G>A MANE Select	NP_003995.2:p.Glu101=