ClinVar

NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47475127 (on Assembly GRCh38)
• Chr2: 47702266 (on Assembly GRCh37)

Preferred name:

NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu)

HGVS:

• NC_000002.12:g.47475127G>T
• NG_007110.2:g.77004G>T
• NM_000251.3:c.1862G>TMANE SELECT
• NM_001258281.1:c.1664G>T
• NP_000242.1:p.Arg621Leu
• NP_000242.1:p.Arg621Leu
• NP_001245210.1:p.Arg555Leu
• LRG_218t1:c.1862G>T
• LRG_218:g.77004G>T
• LRG_218p1:p.Arg621Leu
• NC_000002.11:g.47702266G>T
• NM_000251.1:c.1862G>T
• NM_000251.2:c.1862G>T

This HGVS expression did not pass validation

Protein change:

R555L

Links:

dbSNP: rs759263820

NCBI 1000 Genomes Browser:

rs759263820

Molecular consequence:

• NM_000251.3:c.1862G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258281.1:c.1664G>T - missense variant - [Sequence Ontology: SO:0001583]