ClinGen Allele Registry
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Canonical Allele Identifier:
CA322311024
Gene: PPIL2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1043921894
gnomAD v4:
22-21658297-T-C
MyVariant Identifiers:
chr22:g.22012586T>C (hg19)
chr22:g.21658297T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.21658297T>C , CM000684.2:g.21658297T>C
GRCh38
NC_000022.10:g.22012586T>C , CM000684.1:g.22012586T>C
GRCh37
NC_000022.9:g.20342586T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000641967.1:n.194T>C
ENST00000498589.1:n.374T>C
XM_017029165.1:c.509T>C
XP_016884654.1:p.Leu170Pro
NR_169729.1:n.1109T>C
NR_169730.1:n.1012T>C
NR_169731.1:n.432-2540T>C
NR_169732.1:n.163T>C
NR_169733.1:n.221T>C
NR_169734.1:n.245T>C
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