Canonical Allele Identifier: CA2583525389
Gene: PIK3R2 HGNC NCBI

Linked Data

gnomAD v4: 19-18156185-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18156189del , CM000681.2:g.18156189del GRCh38
NC_000019.9:g.18266999del , CM000681.1:g.18266999del GRCh37
NC_000019.8:g.18127999del NCBI36
NG_033010.1:g.8012del
NG_033010.2:g.8012del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222254.13:c.310del MANE Select ENSP00000222254.6:p.Ala104ProfsTer26
ENST00000617130.5:c.310del ENSP00000477864.2:p.Ala104ProfsTer26
ENST00000617642.2:c.310del ENSP00000484714.2:p.Ala104ProfsTer26
ENST00000222254.12:c.310del ENSP00000222254.6:p.Ala104ProfsTer26
ENST00000426902.5:c.310del ENSP00000395636.1:p.Ala104ProfsTer26
ENST00000593731.1:c.310del ENSP00000471914.1:p.Ala104ProfsTer26
ENST00000617130.4:c.310del ENSP00000477864.1:p.Ala104ProfsTer26
ENST00000617642.1:c.310del ENSP00000484714.1:p.Ala104ProfsTer26
NM_005027.3:c.310del NP_005018.1:p.Ala104ProfsTer26
NR_073517.1:n.850del
NM_005027.4:c.310del MANE Select NP_005018.2:p.Ala104ProfsTer26
NR_073517.2:n.865del
NR_162071.1:n.865del
Search 100 bp 5'
Search 100 bp 3'