ClinVar

NM_001330288.2(SMARCC2):c.2340G>C (p.Glu780Asp)

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: 56171278 (on Assembly GRCh38)
• Chr12: 56565062 (on Assembly GRCh37)

Preferred name:

NM_001330288.2(SMARCC2):c.2340G>C (p.Glu780Asp)

HGVS:

• NC_000012.12:g.56171278C>G
• NG_047081.1:g.23290G>C
• NM_001130420.3:c.2340G>C
• NM_001330288.2:c.2340G>CMANE SELECT
• NM_003075.5:c.2247G>C
• NM_139067.4:c.2340G>C
• NP_001123892.1:p.Glu780Asp
• NP_001317217.1:p.Glu780Asp
• NP_003066.2:p.Glu749Asp
• NP_620706.1:p.Glu780Asp
• NC_000012.11:g.56565062C>G

This HGVS expression did not pass validation

Protein change:

E749D

Molecular consequence:

• NM_001130420.3:c.2340G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330288.2:c.2340G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_003075.5:c.2247G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_139067.4:c.2340G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3