ClinVar

NM_000251.3(MSH2):c.1986G>T (p.Gln662His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47475251 (on Assembly GRCh38)
• Chr2: 47702390 (on Assembly GRCh37)

Preferred name:

NM_000251.3(MSH2):c.1986G>T (p.Gln662His)

HGVS:

• NC_000002.12:g.47475251G>T
• NG_007110.2:g.77128G>T
• NM_000251.3:c.1986G>TMANE SELECT
• NM_001258281.1:c.1788G>T
• NP_000242.1:p.Gln662His
• NP_001245210.1:p.Gln596His
• LRG_218t1:c.1986G>T
• LRG_218:g.77128G>T
• NC_000002.11:g.47702390G>T
• NM_000251.2:c.1986G>T

This HGVS expression did not pass validation

Protein change:

Q596H

Links:

dbSNP: rs587780685

NCBI 1000 Genomes Browser:

rs587780685

Molecular consequence:

• NM_000251.3:c.1986G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258281.1:c.1788G>T - missense variant - [Sequence Ontology: SO:0001583]