ClinGen Allele Registry
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Canonical Allele Identifier:
CA513535454
Gene: PPIL2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr22:g.22012679G>T (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.21658390G>T , CM000684.2:g.21658390G>T
GRCh38
NC_000022.10:g.22012679G>T , CM000684.1:g.22012679G>T
GRCh37
NC_000022.9:g.20342679G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000641967.1:n.286+1G>T
ENST00000498589.1:n.467G>T
XM_017029165.1:c.602G>T
XP_016884654.1:p.Gly201Val
NR_169729.1:n.1202G>T
NR_169730.1:n.1105G>T
NR_169731.1:n.432-2447G>T
NR_169732.1:n.256G>T
NR_169733.1:n.314G>T
NR_169734.1:n.338G>T
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