ClinVar

NM_001330288.2(SMARCC2):c.2464A>G (p.Ser822Gly)

Gene:

SMARCC2:SWI/SNF related BAF chromatin remodeling complex subunit C2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.2

Genomic location:

• Chr12: 56169860 (on Assembly GRCh38)
• Chr12: 56563644 (on Assembly GRCh37)

Preferred name:

NM_001330288.2(SMARCC2):c.2464A>G (p.Ser822Gly)

HGVS:

• NC_000012.12:g.56169860T>C
• NG_047081.1:g.24708A>G
• NM_001130420.3:c.2464A>G
• NM_001330288.2:c.2464A>GMANE SELECT
• NM_003075.5:c.2371A>G
• NM_139067.4:c.2464A>G
• NP_001123892.1:p.Ser822Gly
• NP_001317217.1:p.Ser822Gly
• NP_003066.2:p.Ser791Gly
• NP_620706.1:p.Ser822Gly
• NC_000012.11:g.56563644T>C

This HGVS expression did not pass validation

Protein change:

S791G

Links:

dbSNP: rs1592284420

NCBI 1000 Genomes Browser:

rs1592284420

Molecular consequence:

• NM_001130420.3:c.2464A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330288.2:c.2464A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_003075.5:c.2371A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_139067.4:c.2464A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2