Canonical Allele Identifier: CA409093745
Gene: JPH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160035C>A , CM000682.2:g.44160035C>A GRCh38
NC_000020.10:g.42788675C>A , CM000682.1:g.42788675C>A GRCh37
NC_000020.9:g.42222089C>A NCBI36
NG_031867.1:g.32544G>T , LRG_394:g.32544G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.752G>T MANE Select ENSP00000362071.3:p.Ser251Ile
ENST00000372980.3:c.752G>T ENSP00000362071.3:p.Ser251Ile
NM_020433.4:c.752G>T , LRG_394t1:c.752G>T NP_065166.2:p.Ser251Ile
XM_006723832.2:c.752G>T XP_006723895.1:p.Ser251Ile
NM_020433.5:c.752G>T MANE Select NP_065166.2:p.Ser251Ile