ClinVar

NM_000251.3(MSH2):c.2078G>A (p.Cys693Tyr)

Gene:

MSH2:mutS homolog 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47476439 (on Assembly GRCh38)
• Chr2: 47703578 (on Assembly GRCh37)

Preferred name:

NM_000251.3(MSH2):c.2078G>A (p.Cys693Tyr)

HGVS:

• NC_000002.12:g.47476439G>A
• NG_007110.2:g.78316G>A
• NM_000251.3:c.2078G>AMANE SELECT
• NM_001258281.1:c.1880G>A
• NP_000242.1:p.Cys693Tyr
• NP_000242.1:p.Cys693Tyr
• NP_001245210.1:p.Cys627Tyr
• LRG_218t1:c.2078G>A
• LRG_218:g.78316G>A
• LRG_218p1:p.Cys693Tyr
• NC_000002.11:g.47703578G>A
• NM_000251.1:c.2078G>A
• NM_000251.2:c.2078G>A
• p.C693Y

This HGVS expression did not pass validation

Protein change:

C627Y

Links:

dbSNP: rs1057524909

NCBI 1000 Genomes Browser:

rs1057524909

Molecular consequence:

• NM_000251.3:c.2078G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258281.1:c.1880G>A - missense variant - [Sequence Ontology: SO:0001583]