Canonical Allele Identifier: CA409093578
Gene: JPH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44159954G>T , CM000682.2:g.44159954G>T GRCh38
NC_000020.10:g.42788594G>T , CM000682.1:g.42788594G>T GRCh37
NC_000020.9:g.42222008G>T NCBI36
NG_031867.1:g.32625C>A , LRG_394:g.32625C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.833C>A MANE Select ENSP00000362071.3:p.Pro278His
ENST00000372980.3:c.833C>A ENSP00000362071.3:p.Pro278His
NM_020433.4:c.833C>A , LRG_394t1:c.833C>A NP_065166.2:p.Pro278His
XM_006723832.2:c.833C>A XP_006723895.1:p.Pro278His
NM_020433.5:c.833C>A MANE Select NP_065166.2:p.Pro278His