ClinVar

NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val)

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: 2115967 (on Assembly GRCh38)
• Chr9: 2115967 (on Assembly GRCh37)

Preferred name:

NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val)

Other names:

NC_000009.11:g.2115967C>T

HGVS:

• NC_000009.12:g.2115967C>T
• NG_032162.2:g.140678C>T
• NM_001289396.2:c.3602C>T
• NM_001289397.2:c.3428C>T
• NM_003070.5:c.3602C>TMANE SELECT
• NM_139045.4:c.3602C>T
• NP_001276325.1:p.Ala1201Val
• NP_001276325.1:p.Ala1201Val
• NP_001276326.1:p.Ala1143Val
• NP_003061.3:p.Ala1201Val
• NP_620614.2:p.Ala1201Val
• LRG_882t1:c.3602C>T
• LRG_882:g.140678C>T
• LRG_882p1:p.Ala1201Val
• NC_000009.11:g.2115967C>T
• NM_001289396.1:c.3602C>T
• NM_003070.3:c.3602C>T
• NM_003070.4:c.3602C>T
• P51531:p.Ala1201Val

This HGVS expression did not pass validation

Protein change:

A1143V; ALA1201VAL

Links:

UniProtKB: P51531#VAR_068205; UniProtKB/Swiss-Prot: VAR_068205; OMIM: 600014.0010; dbSNP: rs281875189

NCBI 1000 Genomes Browser:

rs281875189

Molecular consequence:

• NM_001289396.2:c.3602C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289397.2:c.3428C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003070.5:c.3602C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_139045.4:c.3602C>T - missense variant - [Sequence Ontology: SO:0001583]