ClinVar

NM_007194.4(CHEK2):c.274C>G (p.Pro92Ala)

Gene:

CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

• Chr22: 28734448 (on Assembly GRCh38)
• Chr22: 29130436 (on Assembly GRCh37)

Preferred name:

NM_007194.4(CHEK2):c.274C>G (p.Pro92Ala)

HGVS:

• NC_000022.11:g.28734448G>C
• NG_008150.2:g.12419C>G
• NM_001005735.2:c.274C>G
• NM_001257387.2:c.-504C>G
• NM_001349956.2:c.274C>G
• NM_007194.4:c.274C>GMANE SELECT
• NM_145862.2:c.274C>G
• NP_001005735.1:p.Pro92Ala
• NP_001336885.1:p.Pro92Ala
• NP_009125.1:p.Pro92Ala
• NP_665861.1:p.Pro92Ala
• LRG_302t1:c.274C>G
• LRG_302:g.12419C>G
• LRG_302p1:p.Pro92Ala
• NC_000022.10:g.29130436G>C

This HGVS expression did not pass validation

Protein change:

P92A

Molecular consequence:

• NM_001257387.2:c.-504C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001005735.2:c.274C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349956.2:c.274C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_007194.4:c.274C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_145862.2:c.274C>G - missense variant - [Sequence Ontology: SO:0001583]