Canonical Allele Identifier: CA513535534

Gene: PPIL2

Linked Data

• dbSNP Id: rs2066220061
• gnomAD v4: 22-21658414-T-C
• MyVariant Identifiers: chr22:g.22012703T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.21658414T>C , CM000684.2:g.21658414T>C	GRCh38
NC_000022.10:g.22012703T>C , CM000684.1:g.22012703T>C	GRCh37
NC_000022.9:g.20342703T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641967.1:n.286+25T>C
ENST00000498589.1:n.491T>C
XM_017029165.1:c.626T>C	XP_016884654.1:p.Leu209Pro
NR_169729.1:n.1226T>C
NR_169730.1:n.1129T>C
NR_169731.1:n.432-2423T>C
NR_169732.1:n.280T>C
NR_169733.1:n.338T>C
NR_169734.1:n.362T>C