Canonical Allele Identifier: CA2365626478

Gene: JPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44118592C= , CM000682.2:g.44118592C=	GRCh38
NC_000020.10:g.42747232C= , CM000682.1:g.42747232C=	GRCh37
NC_000020.9:g.42180646C=	NCBI36
NG_031867.1:g.73987G= , LRG_394:g.73987G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.1201G= MANE Select	ENSP00000362071.3:p.Ala401=
ENST00000372980.3:c.1201G=	ENSP00000362071.3:p.Ala401=
NM_020433.4:c.1201G= , LRG_394t1:c.1201G=	NP_065166.2:p.Ala401=
XM_006723832.2:c.1201G=	XP_006723895.1:p.Ala401=
NM_020433.5:c.1201G= MANE Select	NP_065166.2:p.Ala401=