Canonical Allele Identifier: CA2652956963

Gene: JPH2

Linked Data

• ClinVar Variation Id: 2999478
• ClinVar RCV Id: RCV003852109
• gnomAD v4: 20-44160426-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44160426C>A , CM000682.2:g.44160426C>A	GRCh38
NC_000020.10:g.42789066C>A , CM000682.1:g.42789066C>A	GRCh37
NC_000020.9:g.42222480C>A	NCBI36
NG_031867.1:g.32153G>T , LRG_394:g.32153G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372980.4:c.380-19G>T MANE Select	ENSP00000362071.3:n.380-19G>T
ENST00000372980.3:c.380-19G>T	ENSP00000362071.3:n.380-19G>T
NM_020433.4:c.380-19G>T , LRG_394t1:c.380-19G>T	NP_065166.2:n.380-19G>T
XM_006723832.2:c.380-19G>T	XP_006723895.1:n.380-19G>T
NM_020433.5:c.380-19G>T MANE Select	NP_065166.2:n.380-19G>T