Canonical Allele Identifier: CA409094078

Gene: JPH2

Linked Data

• ClinVar Variation Id: 524960
• ClinVar RCV Id: RCV000628884 ; RCV002358752 ; RCV002499024 ; RCV003993674
• dbSNP Id: rs1258920337
• gnomAD v2: 20-42788837-C-A
• gnomAD v3: 20-44160197-C-A
• gnomAD v4: 20-44160197-C-A
• MyVariant Identifiers: chr20:g.42788837C>A (hg19) ; chr20:g.44160197C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44160197C>A , CM000682.2:g.44160197C>A	GRCh38
NC_000020.10:g.42788837C>A , CM000682.1:g.42788837C>A	GRCh37
NC_000020.9:g.42222251C>A	NCBI36
NG_031867.1:g.32382G>T , LRG_394:g.32382G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.590G>T MANE Select	ENSP00000362071.3:p.Arg197Leu
ENST00000372980.3:c.590G>T	ENSP00000362071.3:p.Arg197Leu
NM_020433.4:c.590G>T , LRG_394t1:c.590G>T	NP_065166.2:p.Arg197Leu
XM_006723832.2:c.590G>T	XP_006723895.1:p.Arg197Leu
NM_020433.5:c.590G>T MANE Select	NP_065166.2:p.Arg197Leu