Canonical Allele Identifier: CA2365626476
Gene: JPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118590C= , CM000682.2:g.44118590C= GRCh38
NC_000020.10:g.42747230C= , CM000682.1:g.42747230C= GRCh37
NC_000020.9:g.42180644C= NCBI36
NG_031867.1:g.73989G= , LRG_394:g.73989G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.1203G= MANE Select ENSP00000362071.3:p.Ala401=
ENST00000372980.3:c.1203G= ENSP00000362071.3:p.Ala401=
NM_020433.4:c.1203G= , LRG_394t1:c.1203G= NP_065166.2:p.Ala401=
XM_006723832.2:c.1203G= XP_006723895.1:p.Ala401=
NM_020433.5:c.1203G= MANE Select NP_065166.2:p.Ala401=