Canonical Allele Identifier: CA9306960
Gene: PIK3R2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.18163100G>A
GRCh37 chr19:g.18273910G>A
Revel Score:
ENST00000222254 (MANE Select) 0.176
gnomAD v2:
19:18273910 G / A
gnomAD v3:
19:18163100 G / A
gnomAD v4:
chr19-18163100-G-A
Joint Max Group AF 0.00053208 (NFE)
Genomes Max Group AF 0.00036766 (NFE)
Exomes Max Group AF 0.00053496 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18163100G>A , CM000681.2:g.18163100G>A GRCh38
NC_000019.9:g.18273910G>A , CM000681.1:g.18273910G>A GRCh37
NC_000019.8:g.18134910G>A NCBI36
NG_033010.1:g.14923G>A
NG_033010.2:g.14923G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222254.13:c.1243G>A MANE Select ENSP00000222254.6:p.Ala415Thr
ENST00000617130.5:c.*222G>A ENSP00000477864.2:n.*222G>A
ENST00000617642.2:c.*222G>A ENSP00000484714.2:n.*222G>A
ENST00000675271.1:n.189G>A
ENST00000222254.12:c.1243G>A ENSP00000222254.6:p.Ala415Thr
ENST00000426902.5:c.1243G>A ENSP00000395636.1:p.Ala415Thr
ENST00000593731.1:c.1243G>A ENSP00000471914.1:p.Ala415Thr
ENST00000617130.4:c.1243G>A ENSP00000477864.1:p.Ala415Thr
ENST00000617642.1:c.1243G>A ENSP00000484714.1:p.Ala415Thr
NM_005027.3:c.1243G>A NP_005018.1:p.Ala415Thr
NR_073517.1:n.1783G>A
NM_005027.4:c.1243G>A MANE Select NP_005018.2:p.Ala415Thr
NR_073517.2:n.1798G>A
NR_162071.1:n.1581G>A
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