ClinVar

NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln238_Pro239insGlnGlnGln)

Gene:

SMARCA2:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

9p24.3

Genomic location:

• Chr9: 2039776 - 2039777 (on Assembly GRCh38)
• Chr9: 2039776 - 2039777 (on Assembly GRCh37)

Preferred name:

NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln238_Pro239insGlnGlnGln)

HGVS:

• NC_000009.12:g.2039779GCA[16]
• NG_032162.2:g.64490GCA[16]
• NG_115850.1:g.121GCA[16]
• NM_001289396.2:c.669_671GCA[16]
• NM_001289397.2:c.669GCA[16]
• NM_003070.5:c.669GCA[16]MANE SELECT
• NM_139045.4:c.669GCA[16]
• NP_001276325.1:p.Gln238_Pro239insGlnGlnGln
• NP_001276325.1:p.Gln238_Pro239insGlnGlnGln
• NP_001276326.1:p.Gln238_Pro239insGlnGlnGln
• NP_003061.3:p.Gln238_Pro239insGlnGlnGln
• NP_620614.2:p.Gln238_Pro239insGlnGlnGln
• LRG_882t1:c.669GCA[16]
• LRG_882:g.64490GCA[16]
• LRG_882p1:p.Gln238_Pro239insGlnGlnGln
• NC_000009.11:g.2039776_2039777insCAGCAGCAG
• NC_000009.11:g.2039779GCA[16]
• NM_001289396.1:c.669GCA[16]
• NM_003070.3:c.666_667insCAGCAGCAG
• NM_003070.3:c.699_707dupGCAGCAGCA
• NM_003070.5:c.699_707dupMANE SELECT

This HGVS expression did not pass validation

Links:

dbSNP: rs113070757

NCBI 1000 Genomes Browser:

rs113070757

Molecular consequence:

• NM_001289396.2:c.669_671GCA[16] - inframe_indel - [Sequence Ontology: SO:0001820]
• NM_001289397.2:c.669GCA[16] - inframe_insertion - [Sequence Ontology: SO:0001821]
• NM_003070.5:c.669GCA[16] - inframe_insertion - [Sequence Ontology: SO:0001821]
• NM_139045.4:c.669GCA[16] - inframe_insertion - [Sequence Ontology: SO:0001821]