Canonical Allele Identifier: CA2580098214
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2009659
ClinVar RCV Id: RCV002842583
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118613_44118614del , CM000682.2:g.44118613_44118614del GRCh38
NC_000020.10:g.42747253_42747254del , CM000682.1:g.42747253_42747254del GRCh37
NC_000020.9:g.42180667_42180668del NCBI36
NG_031867.1:g.73966_73967del , LRG_394:g.73966_73967del

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.1180_1181del MANE Select ENSP00000362071.3:p.Ala394GlnfsTer5
ENST00000372980.3:c.1180_1181del ENSP00000362071.3:p.Ala394GlnfsTer5
NM_020433.4:c.1180_1181del , LRG_394t1:c.1180_1181del NP_065166.2:p.Ala394GlnfsTer5
XM_006723832.2:c.1180_1181del XP_006723895.1:p.Ala394GlnfsTer5
NM_020433.5:c.1180_1181del MANE Select NP_065166.2:p.Ala394GlnfsTer5
Search 100 bp 5'
Search 100 bp 3'