Canonical Allele Identifier: CA387460873

Gene: GJB2

Linked Data

• MyVariant Identifiers: chr13:g.20763148G>T (hg19) ; chr13:g.20189009G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189009G>T , CM000675.2:g.20189009G>T	GRCh38
NC_000013.10:g.20763148G>T , CM000675.1:g.20763148G>T	GRCh37
NC_000013.9:g.19661148G>T	NCBI36
NG_008358.1:g.8967C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.573C>A	ENSP00000372295.1:p.Phe191Leu
ENST00000382848.5:c.573C>A MANE Select	ENSP00000372299.4:p.Phe191Leu
ENST00000382844.1:c.573C>A	ENSP00000372295.1:p.Phe191Leu
ENST00000382848.4:c.573C>A	ENSP00000372299.4:p.Phe191Leu
NM_004004.5:c.573C>A	NP_003995.2:p.Phe191Leu
XM_011535049.1:c.573C>A	XP_011533351.1:p.Phe191Leu
XM_011535049.2:c.573C>A	XP_011533351.1:p.Phe191Leu
NM_004004.6:c.573C>A MANE Select	NP_003995.2:p.Phe191Leu