Canonical Allele Identifier: CA9306661
Gene: PIK3R2 HGNC NCBI

Linked Data

ClinVar Variation Id: 444457
ClinVar RCV Id: RCV000513596 RCV002060176
dbSNP Id: rs374448993
ExAC: 19:18266883 G / A
gnomAD v2: 19-18266883-G-A
gnomAD v3: 19-18156073-G-A
gnomAD v4: 19-18156073-G-A
MyVariant Identifiers: chr19:g.18266883G>A (hg19) chr19:g.18156073G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18156073G>A , CM000681.2:g.18156073G>A GRCh38
NC_000019.9:g.18266883G>A , CM000681.1:g.18266883G>A GRCh37
NC_000019.8:g.18127883G>A NCBI36
NG_033010.1:g.7896G>A
NG_033010.2:g.7896G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222254.13:c.194G>A MANE Select ENSP00000222254.6:p.Arg65Gln
ENST00000617130.5:c.194G>A ENSP00000477864.2:p.Arg65Gln
ENST00000617642.2:c.194G>A ENSP00000484714.2:p.Arg65Gln
ENST00000222254.12:c.194G>A ENSP00000222254.6:p.Arg65Gln
ENST00000426902.5:c.194G>A ENSP00000395636.1:p.Arg65Gln
ENST00000593731.1:c.194G>A ENSP00000471914.1:p.Arg65Gln
ENST00000617130.4:c.194G>A ENSP00000477864.1:p.Arg65Gln
ENST00000617642.1:c.194G>A ENSP00000484714.1:p.Arg65Gln
NM_005027.3:c.194G>A NP_005018.1:p.Arg65Gln
NR_073517.1:n.734G>A
NM_005027.4:c.194G>A MANE Select NP_005018.2:p.Arg65Gln
NR_073517.2:n.749G>A
NR_162071.1:n.749G>A
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