ClinVar

NM_001267550.2(TTN):c.6420T>A (p.Asp2140Glu)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178775444 (on Assembly GRCh38)
• Chr2: 179640171 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.6420T>A (p.Asp2140Glu)

HGVS:

• NC_000002.12:g.178775444A>T
• NG_011618.3:g.60359T>A
• NM_001256850.1:c.6420T>A
• NM_001267550.2:c.6420T>AMANE SELECT
• NM_003319.4:c.6282T>A
• NM_133378.4:c.6420T>A
• NM_133379.5:c.6420T>A
• NM_133432.3:c.6282T>A
• NM_133437.4:c.6282T>A
• NP_001243779.1:p.Asp2140Glu
• NP_001254479.2:p.Asp2140Glu
• NP_003310.4:p.Asp2094Glu
• NP_596869.4:p.Asp2140Glu
• NP_596870.2:p.Asp2140Glu
• NP_597676.3:p.Asp2094Glu
• NP_597681.4:p.Asp2094Glu
• LRG_391:g.60359T>A
• NC_000002.11:g.179640171A>T
• NM_001256850.1:c.6420T>A

This HGVS expression did not pass validation

Protein change:

D2094E

Links:

dbSNP: rs777009984

NCBI 1000 Genomes Browser:

rs777009984

Molecular consequence:

• NM_001256850.1:c.6420T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.6420T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.6282T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.6420T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133379.5:c.6420T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.6282T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.6282T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1