ClinVar

NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp)

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: 178566017 (on Assembly GRCh38)
• Chr2: 179430744 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp)

HGVS:

• NC_000002.12:g.178566017C>A
• NG_011618.3:g.269786G>T
• NG_051363.1:g.48191C>A
• NM_001256850.1:c.75192G>T
• NM_001267550.2:c.80115G>TMANE SELECT
• NM_003319.4:c.52920G>T
• NM_133378.4:c.72411G>T
• NM_133432.3:c.53295G>T
• NM_133437.4:c.53496G>T
• NP_001243779.1:p.Glu25064Asp
• NP_001254479.2:p.Glu26705Asp
• NP_003310.4:p.Glu17640Asp
• NP_596869.4:p.Glu24137Asp
• NP_597676.3:p.Glu17765Asp
• NP_597681.4:p.Glu17832Asp
• LRG_391:g.269786G>T
• NC_000002.11:g.179430744C>A
• NM_001267550.1:c.80115G>T
• NM_003319.4:c.52920G>T

This HGVS expression did not pass validation

Protein change:

E17640D

Links:

dbSNP: rs558830502

NCBI 1000 Genomes Browser:

rs558830502

Molecular consequence:

• NM_001256850.1:c.75192G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.80115G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.52920G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.72411G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.53295G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.53496G>T - missense variant - [Sequence Ontology: SO:0001583]