Canonical Allele Identifier: CA2365647849
Gene: JPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160321G= , CM000682.2:g.44160321G= GRCh38
NC_000020.10:g.42788961G= , CM000682.1:g.42788961G= GRCh37
NC_000020.9:g.42222375G= NCBI36
NG_031867.1:g.32258C= , LRG_394:g.32258C=

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.466C= MANE Select ENSP00000362071.3:p.Arg156=
ENST00000372980.3:c.466C= ENSP00000362071.3:p.Arg156=
NM_020433.4:c.466C= , LRG_394t1:c.466C= NP_065166.2:p.Arg156=
XM_006723832.2:c.466C= XP_006723895.1:p.Arg156=
NM_020433.5:c.466C= MANE Select NP_065166.2:p.Arg156=