Canonical Allele Identifier: CA2365626490

Gene: JPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44118614G= , CM000682.2:g.44118614G=	GRCh38
NC_000020.10:g.42747254G= , CM000682.1:g.42747254G=	GRCh37
NC_000020.9:g.42180668G=	NCBI36
NG_031867.1:g.73965C= , LRG_394:g.73965C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.1179C= MANE Select	ENSP00000362071.3:p.His393=
ENST00000372980.3:c.1179C=	ENSP00000362071.3:p.His393=
NM_020433.4:c.1179C= , LRG_394t1:c.1179C=	NP_065166.2:p.His393=
XM_006723832.2:c.1179C=	XP_006723895.1:p.His393=
NM_020433.5:c.1179C= MANE Select	NP_065166.2:p.His393=