Canonical Allele Identifier: CA2583525390
Gene: PIK3R2 HGNC NCBI

Linked Data

dbSNP Id: rs2147945465
gnomAD v4: 19-18156189-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18156193del , CM000681.2:g.18156193del GRCh38
NC_000019.9:g.18267003del , CM000681.1:g.18267003del GRCh37
NC_000019.8:g.18128003del NCBI36
NG_033010.1:g.8016del
NG_033010.2:g.8016del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222254.13:c.314del MANE Select ENSP00000222254.6:p.Pro105LeufsTer25
ENST00000617130.5:c.314del ENSP00000477864.2:p.Pro105LeufsTer25
ENST00000617642.2:c.314del ENSP00000484714.2:p.Pro105LeufsTer25
ENST00000222254.12:c.314del ENSP00000222254.6:p.Pro105LeufsTer25
ENST00000426902.5:c.314del ENSP00000395636.1:p.Pro105LeufsTer25
ENST00000593731.1:c.314del ENSP00000471914.1:p.Pro105LeufsTer25
ENST00000617130.4:c.314del ENSP00000477864.1:p.Pro105LeufsTer25
ENST00000617642.1:c.314del ENSP00000484714.1:p.Pro105LeufsTer25
NM_005027.3:c.314del NP_005018.1:p.Pro105LeufsTer25
NR_073517.1:n.854del
NM_005027.4:c.314del MANE Select NP_005018.2:p.Pro105LeufsTer25
NR_073517.2:n.869del
NR_162071.1:n.869del
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