ClinVar

NM_000251.3(MSH2):c.2266A>G (p.Thr756Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47478327 (on Assembly GRCh38)
• Chr2: 47705466 (on Assembly GRCh37)

Preferred name:

NM_000251.3(MSH2):c.2266A>G (p.Thr756Ala)

HGVS:

• NC_000002.12:g.47478327A>G
• NG_007110.2:g.80204A>G
• NM_000251.3:c.2266A>GMANE SELECT
• NM_001258281.1:c.2068A>G
• NP_000242.1:p.Thr756Ala
• NP_000242.1:p.Thr756Ala
• NP_001245210.1:p.Thr690Ala
• LRG_218t1:c.2266A>G
• LRG_218:g.80204A>G
• LRG_218p1:p.Thr756Ala
• NC_000002.11:g.47705466A>G
• NM_000251.1:c.2266A>G
• NM_000251.2:c.2266A>G

This HGVS expression did not pass validation

Protein change:

T690A

Links:

dbSNP: rs750646335

NCBI 1000 Genomes Browser:

rs750646335

Molecular consequence:

• NM_000251.3:c.2266A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258281.1:c.2068A>G - missense variant - [Sequence Ontology: SO:0001583]