Canonical Allele Identifier: CA2365647682
Gene: JPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160033C= , CM000682.2:g.44160033C= GRCh38
NC_000020.10:g.42788673C= , CM000682.1:g.42788673C= GRCh37
NC_000020.9:g.42222087C= NCBI36
NG_031867.1:g.32546G= , LRG_394:g.32546G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.754G= MANE Select ENSP00000362071.3:p.Asp252=
ENST00000372980.3:c.754G= ENSP00000362071.3:p.Asp252=
NM_020433.4:c.754G= , LRG_394t1:c.754G= NP_065166.2:p.Asp252=
XM_006723832.2:c.754G= XP_006723895.1:p.Asp252=
NM_020433.5:c.754G= MANE Select NP_065166.2:p.Asp252=