Canonical Allele Identifier: CA335208

Gene: JPH2

Linked Data

• ClinVar Variation Id: 201792
• ClinVar RCV Id: RCV001699058 ; RCV003927714
• dbSNP Id: rs138992849
• ExAC: 20:42815218 T / C
• gnomAD v2: 20-42815218-T-C
• gnomAD v3: 20-44186578-T-C
• gnomAD v4: 20-44186578-T-C
• MyVariant Identifiers: chr20:g.42815218T>C (hg19) ; chr20:g.44186578T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44186578T>C , CM000682.2:g.44186578T>C	GRCh38
NC_000020.10:g.42815218T>C , CM000682.1:g.42815218T>C	GRCh37
NC_000020.9:g.42248632T>C	NCBI36
NG_031867.1:g.6001A>G , LRG_394:g.6001A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372980.4:c.128A>G MANE Select	ENSP00000362071.3:p.Asn43Ser
ENST00000342272.3:c.128A>G	ENSP00000344590.3:p.Asn43Ser
ENST00000372980.3:c.128A>G	ENSP00000362071.3:p.Asn43Ser
NM_020433.4:c.128A>G , LRG_394t1:c.128A>G	NP_065166.2:p.Asn43Ser
NM_175913.3:c.128A>G	NP_787109.2:p.Asn43Ser
XM_006723832.2:c.128A>G	XP_006723895.1:p.Asn43Ser
XM_006723833.2:c.128A>G	XP_006723896.1:p.Asn43Ser
XM_006723833.4:c.128A>G	XP_006723896.1:p.Asn43Ser
NM_020433.5:c.128A>G MANE Select	NP_065166.2:p.Asn43Ser
NM_175913.4:c.128A>G	NP_787109.2:p.Asn43Ser