Canonical Allele Identifier: CA130573
Gene: PIK3R2 HGNC NCBI

Linked Data

ClinVar Variation Id: 39808
ClinVar RCV Id: RCV001526656 RCV001836718 RCV001849288 RCV003914893
dbSNP Id: rs587776934
gnomAD v4: 19-18162974-G-A
COSMIC: COSM993028
MyVariant Identifiers: chr19:g.18273784G>A (hg19) chr19:g.18162974G>A (hg38)
PubMed: PMID:21984976 PMID:22729224 PMID:22989095 PMID:23449172 PMID:23592320 PMID:23606607 PMID:23619167 PMID:23745724 PMID:24497998 PMID:26520804 PMID:26860062 PMID:27479843 PMID:27854409 PMID:28086757
ERepo: CA130573/MONDO:0016054/018 CA130573/MONDO:0100283/018
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18162974G>A , CM000681.2:g.18162974G>A GRCh38
NC_000019.9:g.18273784G>A , CM000681.1:g.18273784G>A GRCh37
NC_000019.8:g.18134784G>A NCBI36
NG_033010.1:g.14797G>A
NG_033010.2:g.14797G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000222254.13:c.1117G>A MANE Select ENSP00000222254.6:p.Gly373Arg
ENST00000617130.5:c.*96G>A ENSP00000477864.2:n.*96G>A
ENST00000617642.2:c.*96G>A ENSP00000484714.2:n.*96G>A
ENST00000675271.1:n.63G>A
ENST00000222254.12:c.1117G>A ENSP00000222254.6:p.Gly373Arg
ENST00000426902.5:c.1117G>A ENSP00000395636.1:p.Gly373Arg
ENST00000593731.1:c.1117G>A ENSP00000471914.1:p.Gly373Arg
ENST00000617130.4:c.1117G>A ENSP00000477864.1:p.Gly373Arg
ENST00000617642.1:c.1117G>A ENSP00000484714.1:p.Gly373Arg
NM_005027.3:c.1117G>A NP_005018.1:p.Gly373Arg
NR_073517.1:n.1657G>A
NM_005027.4:c.1117G>A MANE Select NP_005018.2:p.Gly373Arg
NR_073517.2:n.1672G>A
NR_162071.1:n.1455G>A
Search 100 bp 5'
Search 100 bp 3'