ClinGen Allele Registry
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Canonical Allele Identifier:
CA513535467
Gene: PPIL2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr22:g.22012683G>C (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.21658394G>C , CM000684.2:g.21658394G>C
GRCh38
NC_000022.10:g.22012683G>C , CM000684.1:g.22012683G>C
GRCh37
NC_000022.9:g.20342683G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000641967.1:n.286+5G>C
ENST00000498589.1:n.471G>C
XM_017029165.1:c.606G>C
XP_016884654.1:p.Glu202Asp
NR_169729.1:n.1206G>C
NR_169730.1:n.1109G>C
NR_169731.1:n.432-2443G>C
NR_169732.1:n.260G>C
NR_169733.1:n.318G>C
NR_169734.1:n.342G>C
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