Canonical Allele Identifier: CA9868646

Gene: JPH2

Linked Data

• ClinVar Variation Id: 403849
• ClinVar RCV Id: RCV000466072 ; RCV001577972 ; RCV002393074
• dbSNP Id: rs200422043
• ExAC: 20:42744657 G / A
• gnomAD v2: 20-42744657-G-A
• gnomAD v3: 20-44116017-G-A
• gnomAD v4: 20-44116017-G-A
• COSMIC: COSM6049770
• MyVariant Identifiers: chr20:g.42744657G>A (hg19) ; chr20:g.44116017G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44116017G>A , CM000682.2:g.44116017G>A	GRCh38
NC_000020.10:g.42744657G>A , CM000682.1:g.42744657G>A	GRCh37
NC_000020.9:g.42178071G>A	NCBI36
NG_031867.1:g.76562C>T , LRG_394:g.76562C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.1658C>T MANE Select	ENSP00000362071.3:p.Ala553Val
ENST00000372980.3:c.1658C>T	ENSP00000362071.3:p.Ala553Val
NM_020433.4:c.1658C>T , LRG_394t1:c.1658C>T	NP_065166.2:p.Ala553Val
XM_006723832.2:c.1658C>T	XP_006723895.1:p.Ala553Val
NM_020433.5:c.1658C>T MANE Select	NP_065166.2:p.Ala553Val