Canonical Allele Identifier: CA202818

Gene: JPH2

Linked Data

• ClinVar Variation Id: 137609
• ClinVar RCV Id: RCV000178323 ; RCV000245269 ; RCV000860421 ; RCV000624925
• dbSNP Id: rs74352869
• ExAC: 20:42744587 G / C
• gnomAD v2: 20-42744587-G-C
• gnomAD v3: 20-44115947-G-C
• gnomAD v4: 20-44115947-G-C
• MyVariant Identifiers: chr20:g.42744587G>C (hg19) ; chr20:g.44115947G>C (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44115947G>C , CM000682.2:g.44115947G>C	GRCh38
NC_000020.10:g.42744587G>C , CM000682.1:g.42744587G>C	GRCh37
NC_000020.9:g.42178001G>C	NCBI36
NG_031867.1:g.76632C>G , LRG_394:g.76632C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.1728C>G MANE Select	ENSP00000362071.3:p.Pro576=
ENST00000372980.3:c.1728C>G	ENSP00000362071.3:p.Pro576=
NM_020433.4:c.1728C>G , LRG_394t1:c.1728C>G	NP_065166.2:p.Pro576=
XM_006723832.2:c.1728C>G	XP_006723895.1:p.Pro576=
NM_020433.5:c.1728C>G MANE Select	NP_065166.2:p.Pro576=