Canonical Allele Identifier: CA404800295
Gene: PIK3R2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1334637
ClinVar RCV Id: RCV001814818
dbSNP Id: rs2147945003
MyVariant Identifiers: chr19:g.18266840C>G (hg19) chr19:g.18156030C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18156030C>G , CM000681.2:g.18156030C>G GRCh38
NC_000019.9:g.18266840C>G , CM000681.1:g.18266840C>G GRCh37
NC_000019.8:g.18127840C>G NCBI36
NG_033010.1:g.7853C>G
NG_033010.2:g.7853C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222254.13:c.151C>G MANE Select ENSP00000222254.6:p.Pro51Ala
ENST00000617130.5:c.151C>G ENSP00000477864.2:p.Pro51Ala
ENST00000617642.2:c.151C>G ENSP00000484714.2:p.Pro51Ala
ENST00000222254.12:c.151C>G ENSP00000222254.6:p.Pro51Ala
ENST00000426902.5:c.151C>G ENSP00000395636.1:p.Pro51Ala
ENST00000593731.1:c.151C>G ENSP00000471914.1:p.Pro51Ala
ENST00000617130.4:c.151C>G ENSP00000477864.1:p.Pro51Ala
ENST00000617642.1:c.151C>G ENSP00000484714.1:p.Pro51Ala
NM_005027.3:c.151C>G NP_005018.1:p.Pro51Ala
NR_073517.1:n.691C>G
NM_005027.4:c.151C>G MANE Select NP_005018.2:p.Pro51Ala
NR_073517.2:n.706C>G
NR_162071.1:n.706C>G
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