ClinVar

NM_000251.3(MSH2):c.1869C>T (p.Ala623=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47475134 (on Assembly GRCh38)
• Chr2: 47702273 (on Assembly GRCh37)

Preferred name:

NM_000251.3(MSH2):c.1869C>T (p.Ala623=)

HGVS:

• NC_000002.12:g.47475134C>T
• NG_007110.2:g.77011C>T
• NM_000251.3:c.1869C>TMANE SELECT
• NM_001258281.1:c.1671C>T
• NP_000242.1:p.Ala623=
• NP_000242.1:p.Ala623=
• NP_001245210.1:p.Ala557=
• LRG_218t1:c.1869C>T
• LRG_218:g.77011C>T
• LRG_218p1:p.Ala623=
• NC_000002.11:g.47702273C>T
• NM_000251.1:c.1869C>T
• NM_000251.2:c.1869C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1553368623

NCBI 1000 Genomes Browser:

rs1553368623

Molecular consequence:

• NM_000251.3:c.1869C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001258281.1:c.1671C>T - synonymous variant - [Sequence Ontology: SO:0001819]