Canonical Allele Identifier: CA2583525416
Gene: PIK3R2 HGNC NCBI

Linked Data

gnomAD v4: 19-18156225-GAAAGGGGGGTGGTCCCCTCAGACCCTTGGTCTCCTCTTCTGTCCAGTGAGGCAATGGGATCTCCAAGGAAGGAGGAA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18156231_18156307del , CM000681.2:g.18156231_18156307del GRCh38
NC_000019.9:g.18267041_18267117del , CM000681.1:g.18267041_18267117del GRCh37
NC_000019.8:g.18128041_18128117del NCBI36
NG_033010.1:g.8054_8130del
NG_033010.2:g.8054_8130del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222254.13:c.322+30_322+106del MANE Select ENSP00000222254.6:n.322+30_322+106del
ENST00000617130.5:c.322+30_322+106del ENSP00000477864.2:n.322+30_322+106del
ENST00000617642.2:c.322+30_322+106del ENSP00000484714.2:n.322+30_322+106del
ENST00000222254.12:c.322+30_322+106del ENSP00000222254.6:n.322+30_322+106del
ENST00000426902.5:c.322+30_322+106del ENSP00000395636.1:n.322+30_322+106del
ENST00000593731.1:c.322+30_322+106del ENSP00000471914.1:n.322+30_322+106del
ENST00000617130.4:c.322+30_322+106del ENSP00000477864.1:n.322+30_322+106del
ENST00000617642.1:c.322+30_322+106del ENSP00000484714.1:n.322+30_322+106del
NM_005027.3:c.322+30_322+106del NP_005018.1:n.322+30_322+106del
NR_073517.1:n.862+30_862+106del
NM_005027.4:c.322+30_322+106del MANE Select NP_005018.2:n.322+30_322+106del
NR_073517.2:n.877+30_877+106del
NR_162071.1:n.877+30_877+106del
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