ClinVar

NM_000251.2(MSH2):c.2047G>T (p.Gly683Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47476408 (on Assembly GRCh38)
• Chr2: 47703547 (on Assembly GRCh37)

Preferred name:

NM_000251.2(MSH2):c.2047G>T (p.Gly683Trp)

HGVS:

• NC_000002.12:g.47476408G>T
• NG_007110.2:g.78285G>T
• NM_000251.2:c.2047G>T
• NM_001258281.1:c.1849G>T
• NP_000242.1:p.Gly683Trp
• NP_001245210.1:p.Gly617Trp
• LRG_218t1:c.2047G>T
• LRG_218:g.78285G>T
• LRG_218p1:p.Gly683Trp
• NC_000002.11:g.47703547G>T
• NM_000251.1:c.2047G>T

This HGVS expression did not pass validation

Protein change:

G617W

Links:

dbSNP: rs267607995

NCBI 1000 Genomes Browser:

rs267607995

Molecular consequence:

• NM_000251.2:c.2047G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258281.1:c.1849G>T - missense variant - [Sequence Ontology: SO:0001583]