Canonical Allele Identifier: CA9306657
Gene: PIK3R2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.18156039G>A
GRCh37 chr19:g.18266849G>A
Revel Score:
ENST00000222254 (MANE Select) 0.059
gnomAD v2:
19:18266849 G / A
gnomAD v3:
19:18156039 G / A
gnomAD v4:
chr19-18156039-G-A
Joint Max Group AF 0.00474049 (NFE)
Genomes Max Group AF 0.00380315 (NFE)
Exomes Max Group AF 0.00477698 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18156039G>A , CM000681.2:g.18156039G>A GRCh38
NC_000019.9:g.18266849G>A , CM000681.1:g.18266849G>A GRCh37
NC_000019.8:g.18127849G>A NCBI36
NG_033010.1:g.7862G>A
NG_033010.2:g.7862G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222254.13:c.160G>A MANE Select ENSP00000222254.6:p.Val54Met
ENST00000617130.5:c.160G>A ENSP00000477864.2:p.Val54Met
ENST00000617642.2:c.160G>A ENSP00000484714.2:p.Val54Met
ENST00000222254.12:c.160G>A ENSP00000222254.6:p.Val54Met
ENST00000426902.5:c.160G>A ENSP00000395636.1:p.Val54Met
ENST00000593731.1:c.160G>A ENSP00000471914.1:p.Val54Met
ENST00000617130.4:c.160G>A ENSP00000477864.1:p.Val54Met
ENST00000617642.1:c.160G>A ENSP00000484714.1:p.Val54Met
NM_005027.3:c.160G>A NP_005018.1:p.Val54Met
NR_073517.1:n.700G>A
NM_005027.4:c.160G>A MANE Select NP_005018.2:p.Val54Met
NR_073517.2:n.715G>A
NR_162071.1:n.715G>A
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