Canonical Allele Identifier: CA632137123
Gene: PIK3R2 HGNC NCBI

Linked Data

dbSNP Id: rs1280988394
gnomAD v2: 19-18266881-ACG-A
gnomAD v4: 19-18156071-ACG-A
MyVariant Identifiers: chr19:g.18266882_18266883del (hg19) chr19:g.18156072_18156073del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18156072_18156073del , CM000681.2:g.18156072_18156073del GRCh38
NC_000019.9:g.18266882_18266883del , CM000681.1:g.18266882_18266883del GRCh37
NC_000019.8:g.18127882_18127883del NCBI36
NG_033010.1:g.7895_7896del
NG_033010.2:g.7895_7896del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222254.13:c.193_194del MANE Select ENSP00000222254.6:p.Arg65AlafsTer4
ENST00000617130.5:c.193_194del ENSP00000477864.2:p.Arg65AlafsTer4
ENST00000617642.2:c.193_194del ENSP00000484714.2:p.Arg65AlafsTer4
ENST00000222254.12:c.193_194del ENSP00000222254.6:p.Arg65AlafsTer4
ENST00000426902.5:c.193_194del ENSP00000395636.1:p.Arg65AlafsTer4
ENST00000593731.1:c.193_194del ENSP00000471914.1:p.Arg65AlafsTer4
ENST00000617130.4:c.193_194del ENSP00000477864.1:p.Arg65AlafsTer4
ENST00000617642.1:c.193_194del ENSP00000484714.1:p.Arg65AlafsTer4
NM_005027.3:c.193_194del NP_005018.1:p.Arg65AlafsTer4
NR_073517.1:n.733_734del
NM_005027.4:c.193_194del MANE Select NP_005018.2:p.Arg65AlafsTer4
NR_073517.2:n.748_749del
NR_162071.1:n.748_749del
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