Canonical Allele Identifier: CA314642387

Gene: JPH2

Linked Data

• ClinVar Variation Id: 518854
• ClinVar RCV Id: RCV000619958 ; RCV003917979
• dbSNP Id: rs1037983273
• gnomAD v2: 20-42744383-C-T
• gnomAD v3: 20-44115743-C-T
• gnomAD v4: 20-44115743-C-T
• MyVariant Identifiers: chr20:g.42744383C>T (hg19) ; chr20:g.44115743C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44115743C>T , CM000682.2:g.44115743C>T	GRCh38
NC_000020.10:g.42744383C>T , CM000682.1:g.42744383C>T	GRCh37
NC_000020.9:g.42177797C>T	NCBI36
NG_031867.1:g.76836G>A , LRG_394:g.76836G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.1932G>A MANE Select	ENSP00000362071.3:p.Gly644=
ENST00000372980.3:c.1932G>A	ENSP00000362071.3:p.Gly644=
NM_020433.4:c.1932G>A , LRG_394t1:c.1932G>A	NP_065166.2:p.Gly644=
XM_006723832.2:c.1932G>A	XP_006723895.1:p.Gly644=
NM_020433.5:c.1932G>A MANE Select	NP_065166.2:p.Gly644=