ClinVar

NM_000251.3(MSH2):c.696_697del (p.Ser233fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47412462 - 47412463 (on Assembly GRCh38)
• Chr2: 47639601 - 47639602 (on Assembly GRCh37)

Preferred name:

NM_000251.3(MSH2):c.696_697del (p.Ser233fs)

HGVS:

• NC_000002.12:g.47412464_47412465del
• NG_007110.2:g.14341_14342del
• NM_000251.3:c.696_697delMANE SELECT
• NM_001258281.1:c.498_499del
• NP_000242.1:p.Ser233fs
• NP_000242.1:p.Ser233fs
• NP_001245210.1:p.Ser167fs
• LRG_218t1:c.696_697del
• LRG_218:g.14341_14342del
• LRG_218p1:p.Ser233fs
• NC_000002.11:g.47639601_47639602del
• NC_000002.11:g.47639603_47639604del
• NM_000251.1:c.696_697del
• NM_000251.1:c.696_697delTT
• NM_000251.2:c.696_697del

This HGVS expression did not pass validation

Protein change:

S167fs

Links:

dbSNP: rs63750426

NCBI 1000 Genomes Browser:

rs63750426

Molecular consequence:

• NM_000251.3:c.696_697del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001258281.1:c.498_499del - frameshift variant - [Sequence Ontology: SO:0001589]