ClinVar

NM_001330288.2(SMARCC2):c.2441A>G (p.Glu814Gly)

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: 56169883 (on Assembly GRCh38)
• Chr12: 56563667 (on Assembly GRCh37)

Preferred name:

NM_001330288.2(SMARCC2):c.2441A>G (p.Glu814Gly)

HGVS:

• NC_000012.12:g.56169883T>C
• NG_047081.1:g.24685A>G
• NM_001130420.3:c.2441A>G
• NM_001330288.2:c.2441A>GMANE SELECT
• NM_003075.5:c.2348A>G
• NM_139067.4:c.2441A>G
• NP_001123892.1:p.Glu814Gly
• NP_001317217.1:p.Glu814Gly
• NP_003066.2:p.Glu783Gly
• NP_620706.1:p.Glu814Gly
• NC_000012.11:g.56563667T>C
• NM_003075.3:c.2348A>G

This HGVS expression did not pass validation

Protein change:

E783G

Molecular consequence:

• NM_001130420.3:c.2441A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330288.2:c.2441A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_003075.5:c.2348A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_139067.4:c.2441A>G - missense variant - [Sequence Ontology: SO:0001583]