Canonical Allele Identifier: CA409093728

Gene: JPH2

Linked Data

• gnomAD v4: 20-44160027-T-A
• MyVariant Identifiers: chr20:g.42788667T>A (hg19) ; chr20:g.44160027T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44160027T>A , CM000682.2:g.44160027T>A	GRCh38
NC_000020.10:g.42788667T>A , CM000682.1:g.42788667T>A	GRCh37
NC_000020.9:g.42222081T>A	NCBI36
NG_031867.1:g.32552A>T , LRG_394:g.32552A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.760A>T MANE Select	ENSP00000362071.3:p.Ser254Cys
ENST00000372980.3:c.760A>T	ENSP00000362071.3:p.Ser254Cys
NM_020433.4:c.760A>T , LRG_394t1:c.760A>T	NP_065166.2:p.Ser254Cys
XM_006723832.2:c.760A>T	XP_006723895.1:p.Ser254Cys
NM_020433.5:c.760A>T MANE Select	NP_065166.2:p.Ser254Cys