Canonical Allele Identifier: CA334429

Gene: JPH2

Linked Data

• ClinVar Variation Id: 188245
• ClinVar RCV Id: RCV000168201 ; RCV000217886 ; RCV000757413 ; RCV000845320 ; RCV002345558 ; RCV002478520
• dbSNP Id: rs147407445
• ExAC: 20:42747229 C / T
• gnomAD v2: 20-42747229-C-T
• gnomAD v3: 20-44118589-C-T
• gnomAD v4: 20-44118589-C-T
• MyVariant Identifiers: chr20:g.42747229C>T (hg19) ; chr20:g.44118589C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44118589C>T , CM000682.2:g.44118589C>T	GRCh38
NC_000020.10:g.42747229C>T , CM000682.1:g.42747229C>T	GRCh37
NC_000020.9:g.42180643C>T	NCBI36
NG_031867.1:g.73990G>A , LRG_394:g.73990G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.1204G>A MANE Select	ENSP00000362071.3:p.Glu402Lys
ENST00000372980.3:c.1204G>A	ENSP00000362071.3:p.Glu402Lys
NM_020433.4:c.1204G>A , LRG_394t1:c.1204G>A	NP_065166.2:p.Glu402Lys
XM_006723832.2:c.1204G>A	XP_006723895.1:p.Glu402Lys
NM_020433.5:c.1204G>A MANE Select	NP_065166.2:p.Glu402Lys