Canonical Allele Identifier: CA273446

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189343T>G , CM000675.2:g.20189343T>G	GRCh38
NC_000013.10:g.20763482T>G , CM000675.1:g.20763482T>G	GRCh37
NC_000013.9:g.19661482T>G	NCBI36
NG_008358.1:g.8633A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004004.6:c.239A>C MANE Select	NP_003995.2:p.Gln80Pro
ENST00000382848.5:c.239A>C MANE Select	ENSP00000372299.4:p.Gln80Pro
NM_004004.5:c.239A>C	NP_003995.2:p.Gln80Pro
ENST00000382844.1:c.239A>C	ENSP00000372295.1:p.Gln80Pro
ENST00000382844.2:c.239A>C	ENSP00000372295.1:p.Gln80Pro
ENST00000382848.4:c.239A>C	ENSP00000372299.4:p.Gln80Pro
XM_011535049.1:c.239A>C	XP_011533351.1:p.Gln80Pro
XM_011535049.2:c.239A>C	XP_011533351.1:p.Gln80Pro