Canonical Allele Identifier: CA2365626479
Gene: JPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118593T= , CM000682.2:g.44118593T= GRCh38
NC_000020.10:g.42747233T= , CM000682.1:g.42747233T= GRCh37
NC_000020.9:g.42180647T= NCBI36
NG_031867.1:g.73986A= , LRG_394:g.73986A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.1200A= MANE Select ENSP00000362071.3:p.Ala400=
ENST00000372980.3:c.1200A= ENSP00000362071.3:p.Ala400=
NM_020433.4:c.1200A= , LRG_394t1:c.1200A= NP_065166.2:p.Ala400=
XM_006723832.2:c.1200A= XP_006723895.1:p.Ala400=
NM_020433.5:c.1200A= MANE Select NP_065166.2:p.Ala400=