Canonical Allele Identifier: CA322311086

Gene: PPIL2

Linked Data

• dbSNP Id: rs577292388
• gnomAD v2: 22-22012684-G-A
• gnomAD v3: 22-21658395-G-A
• gnomAD v4: 22-21658395-G-A
• MyVariant Identifiers: chr22:g.22012684G>A (hg19) ; chr22:g.21658395G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.21658395G>A , CM000684.2:g.21658395G>A	GRCh38
NC_000022.10:g.22012684G>A , CM000684.1:g.22012684G>A	GRCh37
NC_000022.9:g.20342684G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641967.1:n.286+6G>A
ENST00000498589.1:n.472G>A
XM_017029165.1:c.607G>A	XP_016884654.1:p.Asp203Asn
NR_169729.1:n.1207G>A
NR_169730.1:n.1110G>A
NR_169731.1:n.432-2442G>A
NR_169732.1:n.261G>A
NR_169733.1:n.319G>A
NR_169734.1:n.343G>A