ClinVar

NM_000251.3(MSH2):c.1979A>G (p.Asp660Gly)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47475244 (on Assembly GRCh38)
• Chr2: 47702383 (on Assembly GRCh37)

Preferred name:

NM_000251.3(MSH2):c.1979A>G (p.Asp660Gly)

HGVS:

• NC_000002.12:g.47475244A>G
• NG_007110.2:g.77121A>G
• NM_000251.3:c.1979A>GMANE SELECT
• NM_001258281.1:c.1781A>G
• NP_000242.1:p.Asp660Gly
• NP_000242.1:p.Asp660Gly
• NP_001245210.1:p.Asp594Gly
• LRG_218t1:c.1979A>G
• LRG_218:g.77121A>G
• LRG_218p1:p.Asp660Gly
• NC_000002.11:g.47702383A>G
• NM_000251.1:c.1979A>G
• NM_000251.2:c.1979A>G

This HGVS expression did not pass validation

Protein change:

D594G

Links:

dbSNP: rs1085308057

NCBI 1000 Genomes Browser:

rs1085308057

Molecular consequence:

• NM_000251.3:c.1979A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258281.1:c.1781A>G - missense variant - [Sequence Ontology: SO:0001583]