Canonical Allele Identifier: CA335226

Gene: JPH2

Linked Data

• ClinVar Variation Id: 201798
• ClinVar RCV Id: RCV000183469 ; RCV000206653 ; RCV000247052 ; RCV000515223
• dbSNP Id: rs558770240
• ExAC: 20:42788766 A / G
• gnomAD v2: 20-42788766-A-G
• gnomAD v3: 20-44160126-A-G
• gnomAD v4: 20-44160126-A-G
• MyVariant Identifiers: chr20:g.42788766A>G (hg19) ; chr20:g.44160126A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44160126A>G , CM000682.2:g.44160126A>G	GRCh38
NC_000020.10:g.42788766A>G , CM000682.1:g.42788766A>G	GRCh37
NC_000020.9:g.42222180A>G	NCBI36
NG_031867.1:g.32453T>C , LRG_394:g.32453T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372980.4:c.661T>C MANE Select	ENSP00000362071.3:p.Phe221Leu
ENST00000372980.3:c.661T>C	ENSP00000362071.3:p.Phe221Leu
NM_020433.4:c.661T>C , LRG_394t1:c.661T>C	NP_065166.2:p.Phe221Leu
XM_006723832.2:c.661T>C	XP_006723895.1:p.Phe221Leu
NM_020433.5:c.661T>C MANE Select	NP_065166.2:p.Phe221Leu