ClinVar

NM_001267550.2(TTN):c.102752T>A (p.Met34251Lys)

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: 178533863 (on Assembly GRCh38)
• Chr2: 179398590 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.102752T>A (p.Met34251Lys)

Other names:

p.Met32610Lys

HGVS:

• NC_000002.12:g.178533863A>T
• NG_011618.3:g.301940T>A
• NG_051363.1:g.16037A>T
• NM_001256850.1:c.97829T>A
• NM_001267550.2:c.102752T>AMANE SELECT
• NM_003319.4:c.75557T>A
• NM_133378.4:c.95048T>A
• NM_133432.3:c.75932T>A
• NM_133437.4:c.76133T>A
• NP_001243779.1:p.Met32610Lys
• NP_001254479.2:p.Met34251Lys
• NP_003310.4:p.Met25186Lys
• NP_596869.4:p.Met31683Lys
• NP_597676.3:p.Met25311Lys
• NP_597681.4:p.Met25378Lys
• LRG_391:g.301940T>A
• NC_000002.11:g.179398590A>T
• NM_001256850.1:c.97829T>A
• NM_133378.4:c.95048T>A

This HGVS expression did not pass validation

Protein change:

M25186K

Links:

dbSNP: rs750864230

NCBI 1000 Genomes Browser:

rs750864230

Molecular consequence:

• NM_001256850.1:c.97829T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.102752T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.75557T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.95048T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.75932T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.76133T>A - missense variant - [Sequence Ontology: SO:0001583]