Canonical Allele Identifier: CA2077114470

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20192695A= , CM000675.2:g.20192695A=	GRCh38
NC_000013.10:g.20766834A= , CM000675.1:g.20766834A=	GRCh37
NC_000013.9:g.19664834A=	NCBI36
NG_008358.1:g.5281T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000382848.5:c.-23+88T= MANE Select	ENSP00000372299.4:n.-23+88T=
ENST00000382848.4:c.-23+88T=	ENSP00000372299.4:n.-23+88T=
NM_004004.5:c.-23+88T=	NP_003995.2:n.-23+88T=
NM_004004.6:c.-23+88T= MANE Select	NP_003995.2:n.-23+88T=