Canonical Allele Identifier: CA404800666
Gene: PIK3R2 HGNC NCBI

Linked Data

dbSNP Id: rs2147945248
gnomAD v4: 19-18156118-C-A
MyVariant Identifiers: chr19:g.18266928C>A (hg19) chr19:g.18156118C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18156118C>A , CM000681.2:g.18156118C>A GRCh38
NC_000019.9:g.18266928C>A , CM000681.1:g.18266928C>A GRCh37
NC_000019.8:g.18127928C>A NCBI36
NG_033010.1:g.7941C>A
NG_033010.2:g.7941C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222254.13:c.239C>A MANE Select ENSP00000222254.6:p.Pro80His
ENST00000617130.5:c.239C>A ENSP00000477864.2:p.Pro80His
ENST00000617642.2:c.239C>A ENSP00000484714.2:p.Pro80His
ENST00000222254.12:c.239C>A ENSP00000222254.6:p.Pro80His
ENST00000426902.5:c.239C>A ENSP00000395636.1:p.Pro80His
ENST00000593731.1:c.239C>A ENSP00000471914.1:p.Pro80His
ENST00000617130.4:c.239C>A ENSP00000477864.1:p.Pro80His
ENST00000617642.1:c.239C>A ENSP00000484714.1:p.Pro80His
NM_005027.3:c.239C>A NP_005018.1:p.Pro80His
NR_073517.1:n.779C>A
NM_005027.4:c.239C>A MANE Select NP_005018.2:p.Pro80His
NR_073517.2:n.794C>A
NR_162071.1:n.794C>A
Search 100 bp 5'
Search 100 bp 3'