ClinVar

NM_001267550.2(TTN):c.95078C>A (p.Ala31693Asp)

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: 178546253 (on Assembly GRCh38)
• Chr2: 179410980 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.95078C>A (p.Ala31693Asp)

HGVS:

• NC_000002.12:g.178546253G>T
• NG_011618.3:g.289550C>A
• NG_051363.1:g.28427G>T
• NM_001256850.1:c.90155C>A
• NM_001267550.2:c.95078C>AMANE SELECT
• NM_003319.4:c.67883C>A
• NM_133378.4:c.87374C>A
• NM_133432.3:c.68258C>A
• NM_133437.4:c.68459C>A
• NP_001243779.1:p.Ala30052Asp
• NP_001254479.2:p.Ala31693Asp
• NP_003310.4:p.Ala22628Asp
• NP_596869.4:p.Ala29125Asp
• NP_597676.3:p.Ala22753Asp
• NP_597681.4:p.Ala22820Asp
• LRG_391:g.289550C>A
• NC_000002.11:g.179410980G>T
• c.87374C>A

This HGVS expression did not pass validation

Protein change:

A22628D

Links:

dbSNP: rs2288326

NCBI 1000 Genomes Browser:

rs2288326

Molecular consequence:

• NM_001256850.1:c.90155C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.95078C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.67883C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.87374C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.68258C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.68459C>A - missense variant - [Sequence Ontology: SO:0001583]