Canonical Allele Identifier: CA2365659745
Gene: JPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44186583G= , CM000682.2:g.44186583G= GRCh38
NC_000020.10:g.42815223G= , CM000682.1:g.42815223G= GRCh37
NC_000020.9:g.42248637G= NCBI36
NG_031867.1:g.5996C= , LRG_394:g.5996C=

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.123C= MANE Select ENSP00000362071.3:p.Ser41=
ENST00000342272.3:c.123C= ENSP00000344590.3:p.Ser41=
ENST00000372980.3:c.123C= ENSP00000362071.3:p.Ser41=
NM_020433.4:c.123C= , LRG_394t1:c.123C= NP_065166.2:p.Ser41=
NM_175913.3:c.123C= NP_787109.2:p.Ser41=
XM_006723832.2:c.123C= XP_006723895.1:p.Ser41=
XM_006723833.2:c.123C= XP_006723896.1:p.Ser41=
XM_006723833.4:c.123C= XP_006723896.1:p.Ser41=
NM_020433.5:c.123C= MANE Select NP_065166.2:p.Ser41=
NM_175913.4:c.123C= NP_787109.2:p.Ser41=