ClinGen Allele Registry
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Canonical Allele Identifier:
CA513535440
Gene: PPIL2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1359893551
gnomAD v3:
22-21658387-G-A
gnomAD v4:
22-21658387-G-A
MyVariant Identifiers:
chr22:g.22012676G>A (hg19)
chr22:g.21658387G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.21658387G>A , CM000684.2:g.21658387G>A
GRCh38
NC_000022.10:g.22012676G>A , CM000684.1:g.22012676G>A
GRCh37
NC_000022.9:g.20342676G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000641967.1:n.284G>A
ENST00000498589.1:n.464G>A
XM_017029165.1:c.599G>A
XP_016884654.1:p.Arg200Gln
NR_169729.1:n.1199G>A
NR_169730.1:n.1102G>A
NR_169731.1:n.432-2450G>A
NR_169732.1:n.253G>A
NR_169733.1:n.311G>A
NR_169734.1:n.335G>A
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