Canonical Allele Identifier: CA2365626466
Gene: JPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118566G= , CM000682.2:g.44118566G= GRCh38
NC_000020.10:g.42747206G= , CM000682.1:g.42747206G= GRCh37
NC_000020.9:g.42180620G= NCBI36
NG_031867.1:g.74013C= , LRG_394:g.74013C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.1227C= MANE Select ENSP00000362071.3:p.Asn409=
ENST00000372980.3:c.1227C= ENSP00000362071.3:p.Asn409=
NM_020433.4:c.1227C= , LRG_394t1:c.1227C= NP_065166.2:p.Asn409=
XM_006723832.2:c.1227C= XP_006723895.1:p.Asn409=
NM_020433.5:c.1227C= MANE Select NP_065166.2:p.Asn409=