Canonical Allele Identifier: CA129218

Gene: JPH2

Linked Data

• ClinVar Variation Id: 30456
• ClinVar RCV Id: RCV000023409 ; RCV001256951 ; RCV001781303 ; RCV002326683
• dbSNP Id: rs387906897
• ExAC: 20:42789006 A / G
• gnomAD v2: 20-42789006-A-G
• gnomAD v3: 20-44160366-A-G
• gnomAD v4: 20-44160366-A-G
• MyVariant Identifiers: chr20:g.42789006A>G (hg19) ; chr20:g.44160366A>G (hg38)
• PubMed: PMID:17509612

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44160366A>G , CM000682.2:g.44160366A>G	GRCh38
NC_000020.10:g.42789006A>G , CM000682.1:g.42789006A>G	GRCh37
NC_000020.9:g.42222420A>G	NCBI36
NG_031867.1:g.32213T>C , LRG_394:g.32213T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.421T>C MANE Select	ENSP00000362071.3:p.Tyr141His
ENST00000372980.3:c.421T>C	ENSP00000362071.3:p.Tyr141His
NM_020433.4:c.421T>C , LRG_394t1:c.421T>C	NP_065166.2:p.Tyr141His
XM_006723832.2:c.421T>C	XP_006723895.1:p.Tyr141His
NM_020433.5:c.421T>C MANE Select	NP_065166.2:p.Tyr141His