Canonical Allele Identifier: CA237199

Gene: JPH2

Linked Data

• ClinVar Variation Id: 191668
• ClinVar RCV Id: RCV000171954 ; RCV000219641 ; RCV002515257
• dbSNP Id: rs778410296
• ExAC: 20:42744364 T / C
• gnomAD v2: 20-42744364-T-C
• gnomAD v3: 20-44115724-T-C
• gnomAD v4: 20-44115724-T-C
• MyVariant Identifiers: chr20:g.42744364T>C (hg19) ; chr20:g.44115724T>C (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44115724T>C , CM000682.2:g.44115724T>C	GRCh38
NC_000020.10:g.42744364T>C , CM000682.1:g.42744364T>C	GRCh37
NC_000020.9:g.42177778T>C	NCBI36
NG_031867.1:g.76855A>G , LRG_394:g.76855A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.1951A>G MANE Select	ENSP00000362071.3:p.Lys651Glu
ENST00000372980.3:c.1951A>G	ENSP00000362071.3:p.Lys651Glu
NM_020433.4:c.1951A>G , LRG_394t1:c.1951A>G	NP_065166.2:p.Lys651Glu
XM_006723832.2:c.1951A>G	XP_006723895.1:p.Lys651Glu
NM_020433.5:c.1951A>G MANE Select	NP_065166.2:p.Lys651Glu