ClinVar

NM_000251.3(MSH2):c.2494G>T (p.Glu832Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47480731 (on Assembly GRCh38)
• Chr2: 47707870 (on Assembly GRCh37)

Preferred name:

NM_000251.3(MSH2):c.2494G>T (p.Glu832Ter)

HGVS:

• NC_000002.12:g.47480731G>T
• NG_007110.2:g.82608G>T
• NM_000251.3:c.2494G>TMANE SELECT
• NM_001258281.1:c.2296G>T
• NP_000242.1:p.Glu832Ter
• NP_000242.1:p.Glu832Ter
• NP_001245210.1:p.Glu766Ter
• LRG_218t1:c.2494G>T
• LRG_218:g.82608G>T
• LRG_218p1:p.Glu832Ter
• NC_000002.11:g.47707870G>T
• NM_000251.1:c.2494G>T
• NM_000251.2:c.2494G>T

This HGVS expression did not pass validation

Protein change:

E766*

Links:

dbSNP: rs863225396

NCBI 1000 Genomes Browser:

rs863225396

Molecular consequence:

• NM_000251.3:c.2494G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001258281.1:c.2296G>T - nonsense - [Sequence Ontology: SO:0001587]