Canonical Allele Identifier: CA130573

Gene: PIK3R2

Linked Data

• ClinVar Variation Id: 39808
• ClinVar RCV Id: RCV000033029 ; RCV000190661 ; RCV000366413 ; RCV000416575 ; 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)
• ERepo: CA130573/MONDO:0016054/018 ; CA130573/MONDO:0100283/018
• 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

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