Canonical Allele Identifier: CA2583525382
Gene: PIK3R2 HGNC NCBI

Linked Data

gnomAD v4: 19-18156022-AGCGCTG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18156023_18156028del , CM000681.2:g.18156023_18156028del GRCh38
NC_000019.9:g.18266833_18266838del , CM000681.1:g.18266833_18266838del GRCh37
NC_000019.8:g.18127833_18127838del NCBI36
NG_033010.1:g.7846_7851del
NG_033010.2:g.7846_7851del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222254.13:c.144_149del MANE Select ENSP00000222254.6:p.Glu48_Cys50delinsAsp
ENST00000617130.5:c.144_149del ENSP00000477864.2:p.Glu48_Cys50delinsAsp
ENST00000617642.2:c.144_149del ENSP00000484714.2:p.Glu48_Cys50delinsAsp
ENST00000222254.12:c.144_149del ENSP00000222254.6:p.Glu48_Cys50delinsAsp
ENST00000426902.5:c.144_149del ENSP00000395636.1:p.Glu48_Cys50delinsAsp
ENST00000593731.1:c.144_149del ENSP00000471914.1:p.Glu48_Cys50delinsAsp
ENST00000617130.4:c.144_149del ENSP00000477864.1:p.Glu48_Cys50delinsAsp
ENST00000617642.1:c.144_149del ENSP00000484714.1:p.Glu48_Cys50delinsAsp
NM_005027.3:c.144_149del NP_005018.1:p.Glu48_Cys50delinsAsp
NR_073517.1:n.684_689del
NM_005027.4:c.144_149del MANE Select NP_005018.2:p.Glu48_Cys50delinsAsp
NR_073517.2:n.699_704del
NR_162071.1:n.699_704del
Search 100 bp 5'
Search 100 bp 3'