Canonical Allele Identifier: CA409101808
Gene: JPH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118579G>A , CM000682.2:g.44118579G>A GRCh38
NC_000020.10:g.42747219G>A , CM000682.1:g.42747219G>A GRCh37
NC_000020.9:g.42180633G>A NCBI36
NG_031867.1:g.74000C>T , LRG_394:g.74000C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.1214C>T MANE Select ENSP00000362071.3:p.Ala405Val
ENST00000372980.3:c.1214C>T ENSP00000362071.3:p.Ala405Val
NM_020433.4:c.1214C>T , LRG_394t1:c.1214C>T NP_065166.2:p.Ala405Val
XM_006723832.2:c.1214C>T XP_006723895.1:p.Ala405Val
NM_020433.5:c.1214C>T MANE Select NP_065166.2:p.Ala405Val