ClinVar

NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr)

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: 178534425 (on Assembly GRCh38)
• Chr2: 179399152 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr)

HGVS:

• NC_000002.12:g.178534425C>T
• NG_011618.3:g.301378G>A
• NG_051363.1:g.16599C>T
• NM_001256850.1:c.97267G>A
• NM_001267550.2:c.102190G>AMANE SELECT
• NM_003319.4:c.74995G>A
• NM_133378.4:c.94486G>A
• NM_133432.3:c.75370G>A
• NM_133437.4:c.75571G>A
• NP_001243779.1:p.Ala32423Thr
• NP_001254479.2:p.Ala34064Thr
• NP_003310.4:p.Ala24999Thr
• NP_596869.4:p.Ala31496Thr
• NP_597676.3:p.Ala25124Thr
• NP_597681.4:p.Ala25191Thr
• LRG_391:g.301378G>A
• NC_000002.11:g.179399152C>T
• NM_001256850.1:c.97267G>A
• c.94486G>A

This HGVS expression did not pass validation

Protein change:

A24999T

Links:

dbSNP: rs200237973

NCBI 1000 Genomes Browser:

rs200237973

Molecular consequence:

• NM_001256850.1:c.97267G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.102190G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.74995G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.94486G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.75370G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.75571G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

5