Canonical Allele Identifier: CA2365647885
Gene: JPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160413G= , CM000682.2:g.44160413G= GRCh38
NC_000020.10:g.42789053G= , CM000682.1:g.42789053G= GRCh37
NC_000020.9:g.42222467G= NCBI36
NG_031867.1:g.32166C= , LRG_394:g.32166C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.380-6C= MANE Select ENSP00000362071.3:n.380-6C=
ENST00000372980.3:c.380-6C= ENSP00000362071.3:n.380-6C=
NM_020433.4:c.380-6C= , LRG_394t1:c.380-6C= NP_065166.2:n.380-6C=
XM_006723832.2:c.380-6C= XP_006723895.1:n.380-6C=
NM_020433.5:c.380-6C= MANE Select NP_065166.2:n.380-6C=