Canonical Allele Identifier: CA513535528
Gene: PPIL2 HGNC NCBI

Linked Data

dbSNP Id: rs2066220026
gnomAD v3: 22-21658412-G-A
gnomAD v4: 22-21658412-G-A
MyVariant Identifiers: chr22:g.22012701G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.21658412G>A , CM000684.2:g.21658412G>A GRCh38
NC_000022.10:g.22012701G>A , CM000684.1:g.22012701G>A GRCh37
NC_000022.9:g.20342701G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000641967.1:n.286+23G>A
ENST00000498589.1:n.489G>A
XM_017029165.1:c.624G>A XP_016884654.1:p.Val208=
NR_169729.1:n.1224G>A
NR_169730.1:n.1127G>A
NR_169731.1:n.432-2425G>A
NR_169732.1:n.278G>A
NR_169733.1:n.336G>A
NR_169734.1:n.360G>A
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