Canonical Allele Identifier: CA2583525380
Gene: PIK3R2 HGNC NCBI

Linked Data

gnomAD v4: 19-18156018-GGC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18156020_18156021del , CM000681.2:g.18156020_18156021del GRCh38
NC_000019.9:g.18266830_18266831del , CM000681.1:g.18266830_18266831del GRCh37
NC_000019.8:g.18127830_18127831del NCBI36
NG_033010.1:g.7843_7844del
NG_033010.2:g.7843_7844del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222254.13:c.141_142del MANE Select ENSP00000222254.6:p.Glu48AlafsTer21
ENST00000617130.5:c.141_142del ENSP00000477864.2:p.Glu48AlafsTer21
ENST00000617642.2:c.141_142del ENSP00000484714.2:p.Glu48AlafsTer21
ENST00000222254.12:c.141_142del ENSP00000222254.6:p.Glu48AlafsTer21
ENST00000426902.5:c.141_142del ENSP00000395636.1:p.Glu48AlafsTer21
ENST00000593731.1:c.141_142del ENSP00000471914.1:p.Glu48AlafsTer21
ENST00000617130.4:c.141_142del ENSP00000477864.1:p.Glu48AlafsTer21
ENST00000617642.1:c.141_142del ENSP00000484714.1:p.Glu48AlafsTer21
NM_005027.3:c.141_142del NP_005018.1:p.Glu48AlafsTer21
NR_073517.1:n.681_682del
NM_005027.4:c.141_142del MANE Select NP_005018.2:p.Glu48AlafsTer21
NR_073517.2:n.696_697del
NR_162071.1:n.696_697del
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