Canonical Allele Identifier: CA409093725

Gene: JPH2

Linked Data

• gnomAD v4: 20-44160026-C-A
• MyVariant Identifiers: chr20:g.42788666C>A (hg19) ; chr20:g.44160026C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44160026C>A , CM000682.2:g.44160026C>A	GRCh38
NC_000020.10:g.42788666C>A , CM000682.1:g.42788666C>A	GRCh37
NC_000020.9:g.42222080C>A	NCBI36
NG_031867.1:g.32553G>T , LRG_394:g.32553G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.761G>T MANE Select	ENSP00000362071.3:p.Ser254Ile
ENST00000372980.3:c.761G>T	ENSP00000362071.3:p.Ser254Ile
NM_020433.4:c.761G>T , LRG_394t1:c.761G>T	NP_065166.2:p.Ser254Ile
XM_006723832.2:c.761G>T	XP_006723895.1:p.Ser254Ile
NM_020433.5:c.761G>T MANE Select	NP_065166.2:p.Ser254Ile