Canonical Allele Identifier: CA2365647902
Gene: JPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160428C= , CM000682.2:g.44160428C= GRCh38
NC_000020.10:g.42789068C= , CM000682.1:g.42789068C= GRCh37
NC_000020.9:g.42222482C= NCBI36
NG_031867.1:g.32151G= , LRG_394:g.32151G=

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.380-21G= MANE Select ENSP00000362071.3:n.380-21G=
ENST00000372980.3:c.380-21G= ENSP00000362071.3:n.380-21G=
NM_020433.4:c.380-21G= , LRG_394t1:c.380-21G= NP_065166.2:n.380-21G=
XM_006723832.2:c.380-21G= XP_006723895.1:n.380-21G=
NM_020433.5:c.380-21G= MANE Select NP_065166.2:n.380-21G=