ClinVar

NM_001267550.2(TTN):c.81487G>T (p.Glu27163Ter)

Genes:

TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178564645 (on Assembly GRCh38)
• Chr2: 179429372 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.81487G>T (p.Glu27163Ter)

HGVS:

• NC_000002.12:g.178564645C>A
• NG_011618.3:g.271158G>T
• NG_051363.1:g.46819C>A
• NM_001256850.1:c.76564G>T
• NM_001267550.2:c.81487G>TMANE SELECT
• NM_003319.4:c.54292G>T
• NM_133378.4:c.73783G>T
• NM_133432.3:c.54667G>T
• NM_133437.4:c.54868G>T
• NP_001243779.1:p.Glu25522Ter
• NP_001254479.1:p.Glu27163Ter
• NP_001254479.2:p.Glu27163Ter
• NP_003310.4:p.Glu18098Ter
• NP_596869.4:p.Glu24595Ter
• NP_597676.3:p.Glu18223Ter
• NP_597681.4:p.Glu18290Ter
• LRG_391t1:c.81487G>T
• LRG_391:g.271158G>T
• LRG_391p1:p.Glu27163Ter
• NC_000002.11:g.179429372C>A
• NM_001267550.1:c.81487G>T

This HGVS expression did not pass validation

Protein change:

E18098*

Molecular consequence:

• NM_001256850.1:c.76564G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001267550.2:c.81487G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_003319.4:c.54292G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_133378.4:c.73783G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_133432.3:c.54667G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_133437.4:c.54868G>T - nonsense - [Sequence Ontology: SO:0001587]