Canonical Allele Identifier: CA2548498493

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189755del , CM000675.2:g.20189755del	GRCh38
NC_000013.10:g.20763894del , CM000675.1:g.20763894del	GRCh37
NC_000013.9:g.19661894del	NCBI36
NG_008358.1:g.8222del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.-173del	ENSP00000372295.1:n.-173del
ENST00000382848.5:c.-22-151del MANE Select	ENSP00000372299.4:n.-22-151del
ENST00000382844.1:c.-173del	ENSP00000372295.1:n.-173del
ENST00000382848.4:c.-22-151del	ENSP00000372299.4:n.-22-151del
NM_004004.5:c.-22-151del	NP_003995.2:n.-22-151del
XM_011535049.1:c.-22-151del	XP_011533351.1:n.-22-151del
XM_011535049.2:c.-22-151del	XP_011533351.1:n.-22-151del
NM_004004.6:c.-22-151del MANE Select	NP_003995.2:n.-22-151del