Canonical Allele Identifier: CA237198

Gene: JPH2

Linked Data

• ClinVar Variation Id: 191667
• ClinVar RCV Id: RCV000171953 ; RCV002492717
• dbSNP Id: rs561604738
• gnomAD v2: 20-42742143-T-A
• gnomAD v3: 20-44113503-T-A
• gnomAD v4: 20-44113503-T-A
• MyVariant Identifiers: chr20:g.42742143T>A (hg19) ; chr20:g.44113503T>A (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44113503T>A , CM000682.2:g.44113503T>A	GRCh38
NC_000020.10:g.42742143T>A , CM000682.1:g.42742143T>A	GRCh37
NC_000020.9:g.42175557T>A	NCBI36
NG_031867.1:g.79076A>T , LRG_394:g.79076A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.*15A>T MANE Select	ENSP00000362071.3:n.*15A>T
ENST00000372980.3:c.*15A>T	ENSP00000362071.3:n.*15A>T
NM_020433.4:c.*15A>T , LRG_394t1:c.*15A>T	NP_065166.2:n.*15A>T
NM_020433.5:c.*15A>T MANE Select	NP_065166.2:n.*15A>T