ClinVar

NM_001267550.2(TTN):c.74080G>T (p.Glu24694Ter)

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: 178572052 (on Assembly GRCh38)
• Chr2: 179436779 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.74080G>T (p.Glu24694Ter)

HGVS:

• NC_000002.12:g.178572052C>A
• NG_011618.3:g.263751G>T
• NG_051363.1:g.54226C>A
• NM_001256850.1:c.69157G>T
• NM_001267550.2:c.74080G>TMANE SELECT
• NM_003319.4:c.46885G>T
• NM_133378.4:c.66376G>T
• NM_133432.3:c.47260G>T
• NM_133437.4:c.47461G>T
• NP_001243779.1:p.Glu23053Ter
• NP_001254479.1:p.Glu24694Ter
• NP_001254479.2:p.Glu24694Ter
• NP_003310.4:p.Glu15629Ter
• NP_596869.4:p.Glu22126Ter
• NP_597676.3:p.Glu15754Ter
• NP_597681.4:p.Glu15821Ter
• LRG_391t1:c.74080G>T
• LRG_391:g.263751G>T
• LRG_391p1:p.Glu24694Ter
• NC_000002.11:g.179436779C>A
• NM_001267550.1:c.74080G>T

This HGVS expression did not pass validation

Protein change:

E15629*

Molecular consequence:

• NM_001256850.1:c.69157G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001267550.2:c.74080G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_003319.4:c.46885G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_133378.4:c.66376G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_133432.3:c.47260G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_133437.4:c.47461G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1