Canonical Allele Identifier: CA2583525386
Gene: PIK3R2 HGNC NCBI

Linked Data

gnomAD v4: 19-18156124-CCCTGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18156127_18156131del , CM000681.2:g.18156127_18156131del GRCh38
NC_000019.9:g.18266937_18266941del , CM000681.1:g.18266937_18266941del GRCh37
NC_000019.8:g.18127937_18127941del NCBI36
NG_033010.1:g.7950_7954del
NG_033010.2:g.7950_7954del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222254.13:c.248_252del MANE Select ENSP00000222254.6:p.Leu83ProfsTer18
ENST00000617130.5:c.248_252del ENSP00000477864.2:p.Leu83ProfsTer18
ENST00000617642.2:c.248_252del ENSP00000484714.2:p.Leu83ProfsTer18
ENST00000222254.12:c.248_252del ENSP00000222254.6:p.Leu83ProfsTer18
ENST00000426902.5:c.248_252del ENSP00000395636.1:p.Leu83ProfsTer18
ENST00000593731.1:c.248_252del ENSP00000471914.1:p.Leu83ProfsTer18
ENST00000617130.4:c.248_252del ENSP00000477864.1:p.Leu83ProfsTer18
ENST00000617642.1:c.248_252del ENSP00000484714.1:p.Leu83ProfsTer18
NM_005027.3:c.248_252del NP_005018.1:p.Leu83ProfsTer18
NR_073517.1:n.788_792del
NM_005027.4:c.248_252del MANE Select NP_005018.2:p.Leu83ProfsTer18
NR_073517.2:n.803_807del
NR_162071.1:n.803_807del
Search 100 bp 5'
Search 100 bp 3'