Canonical Allele Identifier: CA10603527

Gene: PIK3R2

Linked Data

• ClinVar Variation Id: 280374
• ClinVar RCV Id: RCV000394419 ; RCV001849360 ; RCV003236667
• dbSNP Id: rs886041591
• COSMIC: COSM993030
• MyVariant Identifiers: chr19:g.18273793A>G (hg19) ; chr19:g.18162983A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18162983A>G , CM000681.2:g.18162983A>G	GRCh38
NC_000019.9:g.18273793A>G , CM000681.1:g.18273793A>G	GRCh37
NC_000019.8:g.18134793A>G	NCBI36
NG_033010.1:g.14806A>G
NG_033010.2:g.14806A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222254.13:c.1126A>G MANE Select	ENSP00000222254.6:p.Lys376Glu
ENST00000617130.5:c.*105A>G	ENSP00000477864.2:n.*105A>G
ENST00000617642.2:c.*105A>G	ENSP00000484714.2:n.*105A>G
ENST00000675271.1:n.72A>G
ENST00000222254.12:c.1126A>G	ENSP00000222254.6:p.Lys376Glu
ENST00000426902.5:c.1126A>G	ENSP00000395636.1:p.Lys376Glu
ENST00000593731.1:c.1126A>G	ENSP00000471914.1:p.Lys376Glu
ENST00000617130.4:c.1126A>G	ENSP00000477864.1:p.Lys376Glu
ENST00000617642.1:c.1126A>G	ENSP00000484714.1:p.Lys376Glu
NM_005027.3:c.1126A>G	NP_005018.1:p.Lys376Glu
NR_073517.1:n.1666A>G
NM_005027.4:c.1126A>G MANE Select	NP_005018.2:p.Lys376Glu
NR_073517.2:n.1681A>G
NR_162071.1:n.1464A>G