Canonical Allele Identifier: CA506108258
Gene: PIK3R2 HGNC NCBI

Linked Data

dbSNP Id: rs1599961497
gnomAD v4: 19-18156002-G-A
MyVariant Identifiers: chr19:g.18266812G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18156002G>A , CM000681.2:g.18156002G>A GRCh38
NC_000019.9:g.18266812G>A , CM000681.1:g.18266812G>A GRCh37
NC_000019.8:g.18127812G>A NCBI36
NG_033010.1:g.7825G>A
NG_033010.2:g.7825G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222254.13:c.123G>A MANE Select ENSP00000222254.6:p.Leu41=
ENST00000617130.5:c.123G>A ENSP00000477864.2:p.Leu41=
ENST00000617642.2:c.123G>A ENSP00000484714.2:p.Leu41=
ENST00000222254.12:c.123G>A ENSP00000222254.6:p.Leu41=
ENST00000426902.5:c.123G>A ENSP00000395636.1:p.Leu41=
ENST00000593731.1:c.123G>A ENSP00000471914.1:p.Leu41=
ENST00000617130.4:c.123G>A ENSP00000477864.1:p.Leu41=
ENST00000617642.1:c.123G>A ENSP00000484714.1:p.Leu41=
NM_005027.3:c.123G>A NP_005018.1:p.Leu41=
NR_073517.1:n.663G>A
NM_005027.4:c.123G>A MANE Select NP_005018.2:p.Leu41=
NR_073517.2:n.678G>A
NR_162071.1:n.678G>A
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