ClinVar

NM_005027.4(PIK3R2):c.55C>A (p.Arg19=)

Gene:

PIK3R2:phosphoinositide-3-kinase regulatory subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.11

Genomic location:

• Chr19: 18155934 (on Assembly GRCh38)
• Chr19: 18266744 (on Assembly GRCh37)

Preferred name:

NM_005027.4(PIK3R2):c.55C>A (p.Arg19=)

HGVS:

• NC_000019.10:g.18155934C>A
• NG_033010.2:g.7757C>A
• NM_005027.4:c.55C>AMANE SELECT
• NP_005018.2:p.Arg19=
• LRG_1392t1:c.55C>A
• LRG_1392:g.7757C>A
• LRG_1392p1:p.Arg19=
• NC_000019.9:g.18266744C>A
• NG_033010.1:g.7757C>A
• NR_073517.2:n.610C>A
• NR_162071.1:n.610C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs779519249

NCBI 1000 Genomes Browser:

rs779519249

Molecular consequence:

• NR_073517.2:n.610C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_162071.1:n.610C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_005027.4:c.55C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2