Canonical Allele Identifier: CA9868835
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1742589
ClinVar RCV Id: RCV002335339 RCV003096435 RCV003134428
dbSNP Id: rs772526418
ExAC: 20:42788957 G / A
gnomAD v2: 20-42788957-G-A
gnomAD v4: 20-44160317-G-A
COSMIC: COSM3785403
MyVariant Identifiers: chr20:g.42788957G>A (hg19) chr20:g.44160317G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160317G>A , CM000682.2:g.44160317G>A GRCh38
NC_000020.10:g.42788957G>A , CM000682.1:g.42788957G>A GRCh37
NC_000020.9:g.42222371G>A NCBI36
NG_031867.1:g.32262C>T , LRG_394:g.32262C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.470C>T MANE Select ENSP00000362071.3:p.Ser157Leu
ENST00000372980.3:c.470C>T ENSP00000362071.3:p.Ser157Leu
NM_020433.4:c.470C>T , LRG_394t1:c.470C>T NP_065166.2:p.Ser157Leu
XM_006723832.2:c.470C>T XP_006723895.1:p.Ser157Leu
NM_020433.5:c.470C>T MANE Select NP_065166.2:p.Ser157Leu
Search 100 bp 5'
Search 100 bp 3'