ClinVar

NM_000251.3(MSH2):c.2013T>A (p.Asn671Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47476374 (on Assembly GRCh38)
• Chr2: 47703513 (on Assembly GRCh37)

Preferred name:

NM_000251.3(MSH2):c.2013T>A (p.Asn671Lys)

HGVS:

• NC_000002.12:g.47476374T>A
• NG_007110.2:g.78251T>A
• NM_000251.3:c.2013T>AMANE SELECT
• NM_001258281.1:c.1815T>A
• NP_000242.1:p.Asn671Lys
• NP_000242.1:p.Asn671Lys
• NP_001245210.1:p.Asn605Lys
• LRG_218t1:c.2013T>A
• LRG_218:g.78251T>A
• LRG_218p1:p.Asn671Lys
• NC_000002.11:g.47703513T>A
• NM_000251.1:c.2013T>A
• NM_000251.2:c.2013T>A

This HGVS expression did not pass validation

Protein change:

N605K

Links:

dbSNP: rs587779127

NCBI 1000 Genomes Browser:

rs587779127

Molecular consequence:

• NM_000251.3:c.2013T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258281.1:c.1815T>A - missense variant - [Sequence Ontology: SO:0001583]