Canonical Allele Identifier: CA9868662

Gene: JPH2

Linked Data

• ClinVar Variation Id: 380759
• ClinVar RCV Id: RCV000621141 ; RCV002062349 ; RCV001720072 ; RCV002502508
• dbSNP Id: rs559143345
• ExAC: 20:42744749 C / T
• gnomAD v2: 20-42744749-C-T
• gnomAD v3: 20-44116109-C-T
• gnomAD v4: 20-44116109-C-T
• MyVariant Identifiers: chr20:g.42744749C>T (hg19) ; chr20:g.44116109C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44116109C>T , CM000682.2:g.44116109C>T	GRCh38
NC_000020.10:g.42744749C>T , CM000682.1:g.42744749C>T	GRCh37
NC_000020.9:g.42178163C>T	NCBI36
NG_031867.1:g.76470G>A , LRG_394:g.76470G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.1566G>A MANE Select	ENSP00000362071.3:p.Arg522=
ENST00000372980.3:c.1566G>A	ENSP00000362071.3:p.Arg522=
NM_020433.4:c.1566G>A , LRG_394t1:c.1566G>A	NP_065166.2:p.Arg522=
XM_006723832.2:c.1566G>A	XP_006723895.1:p.Arg522=
NM_020433.5:c.1566G>A MANE Select	NP_065166.2:p.Arg522=