ClinVar

NM_000251.3(MSH2):c.1077-229C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47429513 (on Assembly GRCh38)
• Chr2: 47656652 (on Assembly GRCh37)

Preferred name:

NM_000251.3(MSH2):c.1077-229C>T

HGVS:

• NC_000002.12:g.47429513C>T
• NG_007110.2:g.31390C>T
• NM_000251.3:c.1077-229C>TMANE SELECT
• NM_001258281.1:c.879-229C>T
• LRG_218t1:c.1077-229C>T
• LRG_218:g.31390C>T
• NC_000002.11:g.47656652C>T
• NM_000251.2:c.1077-229C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs148883469

NCBI 1000 Genomes Browser:

rs148883469

Molecular consequence:

• NM_000251.3:c.1077-229C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001258281.1:c.879-229C>T - intron variant - [Sequence Ontology: SO:0001627]