ClinVar

NM_001267550.2(TTN):c.99946G>A (p.Ala33316Thr)

Genes:

LOC126806420:BRD4-independent group 4 enhancer GRCh37_chr2:179401104-179402303 [Gene]
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: 178537163 (on Assembly GRCh38)
• Chr2: 179401890 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.99946G>A (p.Ala33316Thr)

Other names:

p.A31675T:GCA>ACA

HGVS:

• NC_000002.12:g.178537163C>T
• NG_011618.3:g.298640G>A
• NG_051363.1:g.19337C>T
• NM_001256850.1:c.95023G>A
• NM_001267550.2:c.99946G>AMANE SELECT
• NM_003319.4:c.72751G>A
• NM_133378.4:c.92242G>A
• NM_133432.3:c.73126G>A
• NM_133437.4:c.73327G>A
• NP_001243779.1:p.Ala31675Thr
• NP_001254479.2:p.Ala33316Thr
• NP_003310.4:p.Ala24251Thr
• NP_596869.4:p.Ala30748Thr
• NP_597676.3:p.Ala24376Thr
• NP_597681.4:p.Ala24443Thr
• LRG_391:g.298640G>A
• NC_000002.11:g.179401890C>T
• NM_003319.4:c.72751G>A
• NM_133378.4:c.92242G>A

This HGVS expression did not pass validation

Protein change:

A24251T

Links:

dbSNP: rs374295768

NCBI 1000 Genomes Browser:

rs374295768

Molecular consequence:

• NM_001256850.1:c.95023G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.99946G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.72751G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.92242G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.73126G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.73327G>A - missense variant - [Sequence Ontology: SO:0001583]