Canonical Allele Identifier: CA2365647640
Gene: JPH2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.833C= MANE Select ENSP00000362071.3:p.Pro278=
ENST00000372980.3:c.833C= ENSP00000362071.3:p.Pro278=
NM_020433.4:c.833C= , LRG_394t1:c.833C= NP_065166.2:p.Pro278=
XM_006723832.2:c.833C= XP_006723895.1:p.Pro278=
NM_020433.5:c.833C= MANE Select NP_065166.2:p.Pro278=