ClinVar

NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47429891 - 47429892 (on Assembly GRCh38)
• Chr2: 47657030 - 47657031 (on Assembly GRCh37)

Preferred name:

NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs)

HGVS:

• NC_000002.12:g.47429891_47429892del
• NG_007110.2:g.31768_31769del
• NM_000251.3:c.1226_1227delMANE SELECT
• NM_001258281.1:c.1028_1029del
• NP_000242.1:p.Gln409fs
• NP_001245210.1:p.Gln343fs
• LRG_218:g.31768_31769del
• NC_000002.11:g.47657030_47657031del
• NC_000002.11:g.47657030_47657031delAG
• NM_000251.1:c.1226_1227del
• NM_000251.1:c.1226_1227delAG
• NM_000251.2:c.1226_1227delAG
• NM_000251.3:c.1226_1227delAGMANE SELECT
• NM_001258281.1:c.1028_1029delAG
• p.Gln409Argfs*7
• p.Q409Rfs*7
• p.Q409RfsX7

This HGVS expression did not pass validation

Protein change:

Q343fs

Links:

dbSNP: rs63750086

NCBI 1000 Genomes Browser:

rs63750086

Molecular consequence:

• NM_000251.3:c.1226_1227del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001258281.1:c.1028_1029del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

1