ClinGen Allele Registry
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Canonical Allele Identifier:
CA513535118
Gene: PPIL2
HGNC
NCBI
Linked Data
gnomAD v4:
22-21658277-C-A
MyVariant Identifiers:
chr22:g.22012566C>A (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.21658277C>A , CM000684.2:g.21658277C>A
GRCh38
NC_000022.10:g.22012566C>A , CM000684.1:g.22012566C>A
GRCh37
NC_000022.9:g.20342566C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000641967.1:n.174C>A
ENST00000498589.1:n.354C>A
XM_017029165.1:c.489C>A
XP_016884654.1:p.Phe163Leu
NR_169729.1:n.1089C>A
NR_169730.1:n.992C>A
NR_169731.1:n.432-2560C>A
NR_169732.1:n.143C>A
NR_169733.1:n.214-13C>A
NR_169734.1:n.225C>A
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