ClinVar

NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47476370 (on Assembly GRCh38)
• Chr2: 47703509 (on Assembly GRCh37)

Preferred name:

NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu)

HGVS:

• NC_000002.12:g.47476370C>T
• NG_007110.2:g.78247C>T
• NM_000251.3:c.2009C>TMANE SELECT
• NM_001258281.1:c.1811C>T
• NP_000242.1:p.Pro670Leu
• NP_000242.1:p.Pro670Leu
• NP_001245210.1:p.Pro604Leu
• LRG_218t1:c.2009C>T
• LRG_218:g.78247C>T
• LRG_218p1:p.Pro670Leu
• NC_000002.11:g.47703509C>T
• NM_000251.1:c.2009C>T
• NM_000251.2:c.2009C>T
• P43246:p.Pro670Leu

This HGVS expression did not pass validation

Protein change:

P604L

Links:

UniProtKB: P43246#VAR_038027; dbSNP: rs41294982

NCBI 1000 Genomes Browser:

rs41294982

Molecular consequence:

• NM_000251.3:c.2009C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258281.1:c.1811C>T - missense variant - [Sequence Ontology: SO:0001583]