Canonical Allele Identifier: CA9868910

Gene: JPH2

Linked Data

• ClinVar Variation Id: 451220
• ClinVar RCV Id: RCV000523455 ; RCV002527622 ; RCV002476061
• dbSNP Id: rs764474492
• ExAC: 20:42815120 T / C
• gnomAD v2: 20-42815120-T-C
• gnomAD v3: 20-44186480-T-C
• gnomAD v4: 20-44186480-T-C
• MyVariant Identifiers: chr20:g.42815120T>C (hg19) ; chr20:g.44186480T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44186480T>C , CM000682.2:g.44186480T>C	GRCh38
NC_000020.10:g.42815120T>C , CM000682.1:g.42815120T>C	GRCh37
NC_000020.9:g.42248534T>C	NCBI36
NG_031867.1:g.6099A>G , LRG_394:g.6099A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.226A>G MANE Select	ENSP00000362071.3:p.Thr76Ala
ENST00000342272.3:c.226A>G	ENSP00000344590.3:p.Thr76Ala
ENST00000372980.3:c.226A>G	ENSP00000362071.3:p.Thr76Ala
NM_020433.4:c.226A>G , LRG_394t1:c.226A>G	NP_065166.2:p.Thr76Ala
NM_175913.3:c.226A>G	NP_787109.2:p.Thr76Ala
XM_006723832.2:c.226A>G	XP_006723895.1:p.Thr76Ala
XM_006723833.2:c.226A>G	XP_006723896.1:p.Thr76Ala
XM_006723833.4:c.226A>G	XP_006723896.1:p.Thr76Ala
NM_020433.5:c.226A>G MANE Select	NP_065166.2:p.Thr76Ala
NM_175913.4:c.226A>G	NP_787109.2:p.Thr76Ala