ClinVar

NM_003070.5(SMARCA2):c.4045C>T (p.Arg1349Ter)

Gene:

SMARCA2:SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p24.3

Genomic location:

• Chr9: 2161749 (on Assembly GRCh38)
• Chr9: 2161749 (on Assembly GRCh37)

Preferred name:

NM_003070.5(SMARCA2):c.4045C>T (p.Arg1349Ter)

HGVS:

• NC_000009.12:g.2161749C>T
• NG_032162.2:g.186460C>T
• NM_001289396.2:c.4045C>T
• NM_001289397.2:c.3871C>T
• NM_001289398.2:c.73C>T
• NM_001289399.2:c.157C>T
• NM_001289400.2:c.163C>T
• NM_003070.5:c.4045C>TMANE SELECT
• NM_139045.4:c.4045C>T
• NP_001276325.1:p.Arg1349Ter
• NP_001276325.1:p.Arg1349Ter
• NP_001276326.1:p.Arg1291Ter
• NP_001276327.1:p.Arg25Ter
• NP_001276328.1:p.Arg53Ter
• NP_001276328.1:p.Arg53Ter
• NP_001276329.1:p.Arg55Ter
• NP_001276329.1:p.Arg55Ter
• NP_003061.3:p.Arg1349Ter
• NP_620614.2:p.Arg1349Ter
• LRG_882t1:c.4045C>T
• LRG_882:g.186460C>T
• LRG_882p1:p.Arg1349Ter
• NC_000009.11:g.2161749C>T
• NM_001289396.1:c.4045C>T
• NM_001289399.1:c.157C>T
• NM_001289400.1:c.163C>T

This HGVS expression did not pass validation

Protein change:

R1291*

Links:

dbSNP: rs2537507437

NCBI 1000 Genomes Browser:

rs2537507437

Molecular consequence:

• NM_001289396.2:c.4045C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001289397.2:c.3871C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001289398.2:c.73C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001289399.2:c.157C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001289400.2:c.163C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_003070.5:c.4045C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_139045.4:c.4045C>T - nonsense - [Sequence Ontology: SO:0001587]