Canonical Allele Identifier: CA248886
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 218769
ClinVar RCV Id: RCV001853272
dbSNP Id: rs864309612
gnomAD v4: 20-44160270-C-CGTTGCT
MyVariant Identifiers: chr20:g.42788911_42788916dupGTTGCT (hg19) chr20:g.42788910_42788911insGTTGCT (hg19) chr20:g.44160271_44160276dupGTTGCT (hg38) chr20:g.44160270_44160271insGTTGCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160273_44160278dup , CM000682.2:g.44160273_44160278dup GRCh38
NC_000020.10:g.42788913_42788918dup , CM000682.1:g.42788913_42788918dup GRCh37
NC_000020.9:g.42222327_42222332dup NCBI36
NG_031867.1:g.32303_32308dup , LRG_394:g.32303_32308dup

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.511_516dup MANE Select ENSP00000362071.3:p.Asn172_Gly173insSerAsn
ENST00000372980.3:c.511_516dup ENSP00000362071.3:p.Asn172_Gly173insSerAsn
NM_020433.4:c.511_516dup , LRG_394t1:c.511_516dup NP_065166.2:p.Asn172_Gly173insSerAsn
XM_006723832.2:c.511_516dup XP_006723895.1:p.Asn172_Gly173insSerAsn
NM_020433.5:c.511_516dup MANE Select NP_065166.2:p.Asn172_Gly173insSerAsn
Search 100 bp 5'
Search 100 bp 3'