ClinVar

NM_152906.7(TANGO2):c.601G>A (p.Glu201Lys)

Gene:

TANGO2:transport and golgi organization 2 homolog [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

• Chr22: 20061679 (on Assembly GRCh38)
• Chr22: 20049202 (on Assembly GRCh37)

Preferred name:

NM_152906.7(TANGO2):c.601G>A (p.Glu201Lys)

HGVS:

• NC_000022.11:g.20061679G>A
• NG_046857.1:g.49680G>A
• NM_001283106.3:c.601G>A
• NM_001283116.3:c.601G>A
• NM_001283129.3:c.724G>A
• NM_001283148.3:c.601G>A
• NM_001283154.3:c.601G>A
• NM_001283179.3:c.415G>A
• NM_001283186.3:c.415G>A
• NM_001283199.3:c.381-1659G>A
• NM_001283215.3:c.575-2863G>A
• NM_001283235.3:c.307G>A
• NM_001283248.3:c.266-1659G>A
• NM_001322141.2:c.724G>A
• NM_001322142.2:c.601G>A
• NM_001322143.2:c.724G>A
• NM_001322144.2:c.724G>A
• NM_001322145.2:c.538G>A
• NM_001322146.2:c.499G>A
• NM_001322147.2:c.538G>A
• NM_001322148.2:c.499G>A
• NM_001322149.2:c.504-1659G>A
• NM_001322150.2:c.307G>A
• NM_001322153.2:c.307G>A
• NM_001322155.2:c.307G>A
• NM_001322160.2:c.499G>A
• NM_001322163.2:c.415G>A
• NM_001322166.2:c.415G>A
• NM_001322167.2:c.415G>A
• NM_001322169.2:c.415G>A
• NM_001322171.2:c.307G>A
• NM_001322172.2:c.307G>A
• NM_001322173.2:c.307G>A
• NM_001322174.2:c.307G>A
• NM_001322175.2:c.307G>A
• NM_152906.7:c.601G>AMANE SELECT
• NP_001270035.1:p.Glu201Lys
• NP_001270045.1:p.Glu201Lys
• NP_001270058.1:p.Glu242Lys
• NP_001270077.1:p.Glu201Lys
• NP_001270083.1:p.Glu201Lys
• NP_001270108.1:p.Glu139Lys
• NP_001270115.1:p.Glu139Lys
• NP_001270164.1:p.Glu103Lys
• NP_001309070.1:p.Glu242Lys
• NP_001309071.1:p.Glu201Lys
• NP_001309072.1:p.Glu242Lys
• NP_001309073.1:p.Glu242Lys
• NP_001309074.1:p.Glu180Lys
• NP_001309075.1:p.Glu167Lys
• NP_001309076.1:p.Glu180Lys
• NP_001309077.1:p.Glu167Lys
• NP_001309079.1:p.Glu103Lys
• NP_001309082.1:p.Glu103Lys
• NP_001309084.1:p.Glu103Lys
• NP_001309089.1:p.Glu167Lys
• NP_001309092.1:p.Glu139Lys
• NP_001309095.1:p.Glu139Lys
• NP_001309096.1:p.Glu139Lys
• NP_001309098.1:p.Glu139Lys
• NP_001309100.1:p.Glu103Lys
• NP_001309101.1:p.Glu103Lys
• NP_001309102.1:p.Glu103Lys
• NP_001309103.1:p.Glu103Lys
• NP_001309104.1:p.Glu103Lys
• NP_690870.3:p.Glu201Lys
• NC_000022.10:g.20049202G>A
• NM_152906.4:c.601G>A
• NR_136206.2:n.591G>A
• NR_136211.2:n.777G>A
• NR_136212.1:n.698G>A

This HGVS expression did not pass validation

Protein change:

E103K

Molecular consequence:

• NM_001283199.3:c.381-1659G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001283215.3:c.575-2863G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001283248.3:c.266-1659G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001322149.2:c.504-1659G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001283106.3:c.601G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001283116.3:c.601G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001283129.3:c.724G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001283148.3:c.601G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001283154.3:c.601G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001283179.3:c.415G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001283186.3:c.415G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001283235.3:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322141.2:c.724G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322142.2:c.601G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322143.2:c.724G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322144.2:c.724G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322145.2:c.538G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322146.2:c.499G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322147.2:c.538G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322148.2:c.499G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322150.2:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322153.2:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322155.2:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322160.2:c.499G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322163.2:c.415G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322166.2:c.415G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322167.2:c.415G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322169.2:c.415G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322171.2:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322172.2:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322173.2:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322174.2:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322175.2:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_152906.7:c.601G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_136206.2:n.591G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_136211.2:n.777G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_136212.1:n.698G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]