ClinVar

NM_000251.3(MSH2):c.1387-9T>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47463022 (on Assembly GRCh38)
• Chr2: 47690161 (on Assembly GRCh37)

Preferred name:

NM_000251.3(MSH2):c.1387-9T>A

HGVS:

• NC_000002.12:g.47463022T>A
• NG_007110.2:g.64899T>A
• NM_000251.3:c.1387-9T>AMANE SELECT
• NM_001258281.1:c.1189-9T>A
• LRG_218t1:c.1387-9T>A
• LRG_218:g.64899T>A
• NC_000002.11:g.47690161T>A
• NM_000251.1:c.1387-9T>A
• NM_000251.2:c.1387-9T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs587779087

NCBI 1000 Genomes Browser:

rs587779087

Molecular consequence:

• NM_000251.3:c.1387-9T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001258281.1:c.1189-9T>A - intron variant - [Sequence Ontology: SO:0001627]