ClinGen Allele Registry
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Canonical Allele Identifier:
CA513535459
Gene: PPIL2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr22:g.22012681G>C (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.21658392G>C , CM000684.2:g.21658392G>C
GRCh38
NC_000022.10:g.22012681G>C , CM000684.1:g.22012681G>C
GRCh37
NC_000022.9:g.20342681G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000641967.1:n.286+3G>C
ENST00000498589.1:n.469G>C
XM_017029165.1:c.604G>C
XP_016884654.1:p.Glu202Gln
NR_169729.1:n.1204G>C
NR_169730.1:n.1107G>C
NR_169731.1:n.432-2445G>C
NR_169732.1:n.258G>C
NR_169733.1:n.316G>C
NR_169734.1:n.340G>C
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