ClinVar

NM_181675.4(PPP2R2B):c.930C>A (p.Asn310Lys)

Genes:

PPP2R2B:protein phosphatase 2 regulatory subunit Bbeta [Gene - OMIM - HGNC]
CTB-99A3.1:uncharacterized CTB-99A3.1 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

5q32

Genomic location:

• Chr5: 146600321 (on Assembly GRCh38)
• Chr5: 145979884 (on Assembly GRCh37)

Preferred name:

NM_181675.4(PPP2R2B):c.930C>A (p.Asn310Lys)

HGVS:

• NC_000005.10:g.146600321G>T
• NG_011570.2:g.486150C>A
• NM_001271899.1:c.948C>A
• NM_001271900.2:c.1104C>A
• NM_001271948.2:c.897C>A
• NM_181674.3:c.1128C>A
• NM_181675.4:c.930C>AMANE SELECT
• NM_181676.3:c.939C>A
• NM_181677.2:c.870C>A
• NM_181678.2:c.897C>A
• NP_001258828.1:p.Asn316Lys
• NP_001258829.1:p.Asn368Lys
• NP_001258877.1:p.Asn299Lys
• NP_858060.2:p.Asn376Lys
• NP_858061.3:p.Asn310Lys
• NP_858062.1:p.Asn313Lys
• NP_858063.1:p.Asn290Lys
• NP_858064.1:p.Asn299Lys
• NC_000005.9:g.145979884G>T
• NR_073526.2:n.1616C>A
• NR_073527.2:n.1111C>A

This HGVS expression did not pass validation

Protein change:

N290K

Links:

dbSNP: rs2151016852

NCBI 1000 Genomes Browser:

rs2151016852

Molecular consequence:

• NM_001271899.1:c.948C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001271900.2:c.1104C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001271948.2:c.897C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181674.3:c.1128C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181675.4:c.930C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181676.3:c.939C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181677.2:c.870C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181678.2:c.897C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_073526.2:n.1616C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_073527.2:n.1111C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]