Canonical Allele Identifier: CA9868541

Gene: JPH2

Linked Data

• dbSNP Id: rs777974143
• ExAC: 20:42744273 G / A
• gnomAD v2: 20-42744273-G-A
• gnomAD v4: 20-44115633-G-A
• MyVariant Identifiers: chr20:g.42744273G>A (hg19) ; chr20:g.44115633G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44115633G>A , CM000682.2:g.44115633G>A	GRCh38
NC_000020.10:g.42744273G>A , CM000682.1:g.42744273G>A	GRCh37
NC_000020.9:g.42177687G>A	NCBI36
NG_031867.1:g.76946C>T , LRG_394:g.76946C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.2010+32C>T MANE Select	ENSP00000362071.3:n.2010+32C>T
ENST00000372980.3:c.2010+32C>T	ENSP00000362071.3:n.2010+32C>T
NM_020433.4:c.2010+32C>T , LRG_394t1:c.2010+32C>T	NP_065166.2:n.2010+32C>T
XM_006723832.2:c.2010+32C>T	XP_006723895.1:n.2010+32C>T
NM_020433.5:c.2010+32C>T MANE Select	NP_065166.2:n.2010+32C>T