ClinGen Allele Registry
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Canonical Allele Identifier:
CA513535193
Gene: PPIL2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr22:g.22012593T>G (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.21658304T>G , CM000684.2:g.21658304T>G
GRCh38
NC_000022.10:g.22012593T>G , CM000684.1:g.22012593T>G
GRCh37
NC_000022.9:g.20342593T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000641967.1:n.201T>G
ENST00000498589.1:n.381T>G
XM_017029165.1:c.516T>G
XP_016884654.1:p.His172Gln
NR_169729.1:n.1116T>G
NR_169730.1:n.1019T>G
NR_169731.1:n.432-2533T>G
NR_169732.1:n.170T>G
NR_169733.1:n.228T>G
NR_169734.1:n.252T>G
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