ClinVar

NM_000251.3(MSH2):c.715C>T (p.Gln239Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47412483 (on Assembly GRCh38)
• Chr2: 47639622 (on Assembly GRCh37)

Preferred name:

NM_000251.3(MSH2):c.715C>T (p.Gln239Ter)

HGVS:

• NC_000002.12:g.47412483C>T
• NG_007110.2:g.14360C>T
• NM_000251.3:c.715C>TMANE SELECT
• NM_001258281.1:c.517C>T
• NP_000242.1:p.Gln239Ter
• NP_000242.1:p.Gln239Ter
• NP_001245210.1:p.Gln173Ter
• LRG_218t1:c.715C>T
• LRG_218:g.14360C>T
• LRG_218p1:p.Gln239Ter
• NC_000002.11:g.47639622C>T
• NM_000251.1:c.715C>T
• NM_000251.2:c.715C>T

This HGVS expression did not pass validation

Protein change:

Q173*

Links:

dbSNP: rs63750488

NCBI 1000 Genomes Browser:

rs63750488

Molecular consequence:

• NM_000251.3:c.715C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001258281.1:c.517C>T - nonsense - [Sequence Ontology: SO:0001587]