Canonical Allele Identifier: CA9306654
Gene: PIK3R2 HGNC NCBI

Linked Data

dbSNP Id: rs753372060
ExAC: 19:18266822 G / A
gnomAD v2: 19-18266822-G-A
gnomAD v3: 19-18156012-G-A
gnomAD v4: 19-18156012-G-A
MyVariant Identifiers: chr19:g.18266822G>A (hg19) chr19:g.18156012G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18156012G>A , CM000681.2:g.18156012G>A GRCh38
NC_000019.9:g.18266822G>A , CM000681.1:g.18266822G>A GRCh37
NC_000019.8:g.18127822G>A NCBI36
NG_033010.1:g.7835G>A
NG_033010.2:g.7835G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222254.13:c.133G>A MANE Select ENSP00000222254.6:p.Glu45Lys
ENST00000617130.5:c.133G>A ENSP00000477864.2:p.Glu45Lys
ENST00000617642.2:c.133G>A ENSP00000484714.2:p.Glu45Lys
ENST00000222254.12:c.133G>A ENSP00000222254.6:p.Glu45Lys
ENST00000426902.5:c.133G>A ENSP00000395636.1:p.Glu45Lys
ENST00000593731.1:c.133G>A ENSP00000471914.1:p.Glu45Lys
ENST00000617130.4:c.133G>A ENSP00000477864.1:p.Glu45Lys
ENST00000617642.1:c.133G>A ENSP00000484714.1:p.Glu45Lys
NM_005027.3:c.133G>A NP_005018.1:p.Glu45Lys
NR_073517.1:n.673G>A
NM_005027.4:c.133G>A MANE Select NP_005018.2:p.Glu45Lys
NR_073517.2:n.688G>A
NR_162071.1:n.688G>A
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