Canonical Allele Identifier: CA322311084

Gene: PPIL2

Linked Data

• dbSNP Id: rs551844400
• gnomAD v2: 22-22012672-TC-T
• gnomAD v3: 22-21658383-TC-T
• gnomAD v4: 22-21658383-TC-T
• MyVariant Identifiers: chr22:g.22012673del (hg19) ; chr22:g.21658384del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.21658386del , CM000684.2:g.21658386del	GRCh38
NC_000022.10:g.22012675del , CM000684.1:g.22012675del	GRCh37
NC_000022.9:g.20342675del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641967.1:n.283del
ENST00000498589.1:n.463del
XM_017029165.1:c.598del	XP_016884654.1:p.Arg200GlyfsTer?
NR_169729.1:n.1198del
NR_169730.1:n.1101del
NR_169731.1:n.432-2451del
NR_169732.1:n.252del
NR_169733.1:n.310del
NR_169734.1:n.334del