ClinGen Allele Registry
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Canonical Allele Identifier:
CA513535463
Gene: PPIL2
HGNC
NCBI
Linked Data
gnomAD v4:
22-21658393-A-G
MyVariant Identifiers:
chr22:g.22012682A>G (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.21658393A>G , CM000684.2:g.21658393A>G
GRCh38
NC_000022.10:g.22012682A>G , CM000684.1:g.22012682A>G
GRCh37
NC_000022.9:g.20342682A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000641967.1:n.286+4A>G
ENST00000498589.1:n.470A>G
XM_017029165.1:c.605A>G
XP_016884654.1:p.Glu202Gly
NR_169729.1:n.1205A>G
NR_169730.1:n.1108A>G
NR_169731.1:n.432-2444A>G
NR_169732.1:n.259A>G
NR_169733.1:n.317A>G
NR_169734.1:n.341A>G
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