Canonical Allele Identifier: CA9306874
Gene: PIK3R2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.18162237T>C
GRCh37 chr19:g.18273047T>C
Revel Score:
ENST00000222254 (MANE Select) 0.024
gnomAD v2:
19:18273047 T / C
gnomAD v3:
19:18162237 T / C
gnomAD v4:
chr19-18162237-T-C
Joint Max Group AF 0.96221797 (AMR)
Genomes Max Group AF 0.95942105 (AFR)
Exomes Max Group AF 0.96328617 (AMR)
ClinVar RCV:
RCV000990187
RCV001528446
ClinVar Variation:
803546
dbSNP:
1011320
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18162237T>C , CM000681.2:g.18162237T>C GRCh38
NC_000019.9:g.18273047T>C , CM000681.1:g.18273047T>C GRCh37
NC_000019.8:g.18134047T>C NCBI36
NG_033010.2:g.14060T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222254.13:c.937T>C MANE Select ENSP00000222254.6:p.Ser313Pro
ENST00000617130.5:c.720T>C ENSP00000477864.2:p.Pro240=
ENST00000617642.2:c.588T>C ENSP00000484714.2:p.Pro196=
ENST00000222254.12:c.937T>C ENSP00000222254.6:p.Ser313Pro
ENST00000426902.5:c.937T>C ENSP00000395636.1:p.Ser313Pro
ENST00000593731.1:c.937T>C ENSP00000471914.1:p.Ser313Pro
ENST00000600533.2:n.42T>C
ENST00000617130.4:c.937T>C ENSP00000477864.1:p.Ser313Pro
ENST00000617642.1:c.937T>C ENSP00000484714.1:p.Ser313Pro
NM_005027.4:c.937T>C MANE Select NP_005018.2:p.Ser313Pro
NR_073517.2:n.1492T>C
NR_162071.1:n.1275T>C
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