Canonical Allele Identifier: CA170556
Gene: PIK3R2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143990
ClinVar RCV Id: RCV000133505
dbSNP Id: rs587777624
MyVariant Identifiers: chr19:g.18273869T>C (hg19) chr19:g.18163059T>C (hg38)
PubMed: PMID:17675034 PMID:23745724
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18163059T>C , CM000681.2:g.18163059T>C GRCh38
NC_000019.9:g.18273869T>C , CM000681.1:g.18273869T>C GRCh37
NC_000019.8:g.18134869T>C NCBI36
NG_033010.1:g.14882T>C
NG_033010.2:g.14882T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000222254.13:c.1202T>C MANE Select ENSP00000222254.6:p.Leu401Pro
ENST00000617130.5:c.*181T>C ENSP00000477864.2:n.*181T>C
ENST00000617642.2:c.*181T>C ENSP00000484714.2:n.*181T>C
ENST00000675271.1:n.148T>C
ENST00000222254.12:c.1202T>C ENSP00000222254.6:p.Leu401Pro
ENST00000426902.5:c.1202T>C ENSP00000395636.1:p.Leu401Pro
ENST00000593731.1:c.1202T>C ENSP00000471914.1:p.Leu401Pro
ENST00000617130.4:c.1202T>C ENSP00000477864.1:p.Leu401Pro
ENST00000617642.1:c.1202T>C ENSP00000484714.1:p.Leu401Pro
NM_005027.3:c.1202T>C NP_005018.1:p.Leu401Pro
NR_073517.1:n.1742T>C
NM_005027.4:c.1202T>C MANE Select NP_005018.2:p.Leu401Pro
NR_073517.2:n.1757T>C
NR_162071.1:n.1540T>C
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