Canonical Allele Identifier: CA322311033

Gene: PPIL2

Linked Data

• dbSNP Id: rs905353936
• gnomAD v2: 22-22012594-T-C
• gnomAD v3: 22-21658305-T-C
• gnomAD v4: 22-21658305-T-C
• MyVariant Identifiers: chr22:g.22012594T>C (hg19) ; chr22:g.21658305T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.21658305T>C , CM000684.2:g.21658305T>C	GRCh38
NC_000022.10:g.22012594T>C , CM000684.1:g.22012594T>C	GRCh37
NC_000022.9:g.20342594T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641967.1:n.202T>C
ENST00000498589.1:n.382T>C
XM_017029165.1:c.517T>C	XP_016884654.1:p.Cys173Arg
NR_169729.1:n.1117T>C
NR_169730.1:n.1020T>C
NR_169731.1:n.432-2532T>C
NR_169732.1:n.171T>C
NR_169733.1:n.229T>C
NR_169734.1:n.253T>C