Canonical Allele Identifier: CA2583525379
Gene: PIK3R2 HGNC NCBI

Linked Data

gnomAD v4: 19-18156013-AGGGT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18156016_18156019del , CM000681.2:g.18156016_18156019del GRCh38
NC_000019.9:g.18266826_18266829del , CM000681.1:g.18266826_18266829del GRCh37
NC_000019.8:g.18127826_18127829del NCBI36
NG_033010.1:g.7839_7842del
NG_033010.2:g.7839_7842del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222254.13:c.137_140del MANE Select ENSP00000222254.6:p.Gly46AlafsTer?
ENST00000617130.5:c.137_140del ENSP00000477864.2:p.Gly46AlafsTer?
ENST00000617642.2:c.137_140del ENSP00000484714.2:p.Gly46AlafsTer?
ENST00000222254.12:c.137_140del ENSP00000222254.6:p.Gly46AlafsTer?
ENST00000426902.5:c.137_140del ENSP00000395636.1:p.Gly46AlafsTer?
ENST00000593731.1:c.137_140del ENSP00000471914.1:p.Gly46AlafsTer?
ENST00000617130.4:c.137_140del ENSP00000477864.1:p.Gly46AlafsTer?
ENST00000617642.1:c.137_140del ENSP00000484714.1:p.Gly46AlafsTer?
NM_005027.3:c.137_140del NP_005018.1:p.Gly46AlafsTer?
NR_073517.1:n.677_680del
NM_005027.4:c.137_140del MANE Select NP_005018.2:p.Gly46AlafsTer?
NR_073517.2:n.692_695del
NR_162071.1:n.692_695del
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