Canonical Allele Identifier: CA506108280
Gene: PIK3R2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2154485
ClinVar RCV Id: RCV003069310
dbSNP Id: rs2147944929
gnomAD v4: 19-18156011-C-T
MyVariant Identifiers: chr19:g.18266821C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18156011C>T , CM000681.2:g.18156011C>T GRCh38
NC_000019.9:g.18266821C>T , CM000681.1:g.18266821C>T GRCh37
NC_000019.8:g.18127821C>T NCBI36
NG_033010.1:g.7834C>T
NG_033010.2:g.7834C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222254.13:c.132C>T MANE Select ENSP00000222254.6:p.Ala44=
ENST00000617130.5:c.132C>T ENSP00000477864.2:p.Ala44=
ENST00000617642.2:c.132C>T ENSP00000484714.2:p.Ala44=
ENST00000222254.12:c.132C>T ENSP00000222254.6:p.Ala44=
ENST00000426902.5:c.132C>T ENSP00000395636.1:p.Ala44=
ENST00000593731.1:c.132C>T ENSP00000471914.1:p.Ala44=
ENST00000617130.4:c.132C>T ENSP00000477864.1:p.Ala44=
ENST00000617642.1:c.132C>T ENSP00000484714.1:p.Ala44=
NM_005027.3:c.132C>T NP_005018.1:p.Ala44=
NR_073517.1:n.672C>T
NM_005027.4:c.132C>T MANE Select NP_005018.2:p.Ala44=
NR_073517.2:n.687C>T
NR_162071.1:n.687C>T
Search 100 bp 5'
Search 100 bp 3'