ClinVar

NM_000251.3(MSH2):c.186G>A (p.Gly62=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47403377 (on Assembly GRCh38)
• Chr2: 47630516 (on Assembly GRCh37)

Preferred name:

NM_000251.3(MSH2):c.186G>A (p.Gly62=)

HGVS:

• NC_000002.12:g.47403377G>A
• NG_007110.2:g.5254G>A
• NM_000251.3:c.186G>AMANE SELECT
• NM_001258281.1:c.-13G>A
• NP_000242.1:p.Gly62=
• NP_000242.1:p.Gly62=
• LRG_218t1:c.186G>A
• LRG_218:g.5254G>A
• LRG_218p1:p.Gly62=
• NC_000002.11:g.47630516G>A
• NM_000251.1:c.186G>A
• NM_000251.2:c.186G>A
• p.G62G

This HGVS expression did not pass validation

Links:

dbSNP: rs750058876

NCBI 1000 Genomes Browser:

rs750058876

Molecular consequence:

• NM_001258281.1:c.-13G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000251.3:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]