Canonical Allele Identifier: CA2583525385
Gene: PIK3R2 HGNC NCBI

Linked Data

gnomAD v4: 19-18156114-GGGCCCGTGGCCCT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18156121_18156133del , CM000681.2:g.18156121_18156133del GRCh38
NC_000019.9:g.18266931_18266943del , CM000681.1:g.18266931_18266943del GRCh37
NC_000019.8:g.18127931_18127943del NCBI36
NG_033010.1:g.7944_7956del
NG_033010.2:g.7944_7956del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222254.13:c.242_254del MANE Select ENSP00000222254.6:p.Val81GlyfsTer?
ENST00000617130.5:c.242_254del ENSP00000477864.2:p.Val81GlyfsTer?
ENST00000617642.2:c.242_254del ENSP00000484714.2:p.Val81GlyfsTer?
ENST00000222254.12:c.242_254del ENSP00000222254.6:p.Val81GlyfsTer?
ENST00000426902.5:c.242_254del ENSP00000395636.1:p.Val81GlyfsTer?
ENST00000593731.1:c.242_254del ENSP00000471914.1:p.Val81GlyfsTer?
ENST00000617130.4:c.242_254del ENSP00000477864.1:p.Val81GlyfsTer?
ENST00000617642.1:c.242_254del ENSP00000484714.1:p.Val81GlyfsTer?
NM_005027.3:c.242_254del NP_005018.1:p.Val81GlyfsTer?
NR_073517.1:n.782_794del
NM_005027.4:c.242_254del MANE Select NP_005018.2:p.Val81GlyfsTer?
NR_073517.2:n.797_809del
NR_162071.1:n.797_809del
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