ClinVar

NM_001267550.2(TTN):c.82106G>A (p.Arg27369Lys)

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: 178564026 (on Assembly GRCh38)
• Chr2: 179428753 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.82106G>A (p.Arg27369Lys)

HGVS:

• NC_000002.12:g.178564026C>T
• NG_011618.3:g.271777G>A
• NG_051363.1:g.46200C>T
• NM_001256850.1:c.77183G>A
• NM_001267550.2:c.82106G>AMANE SELECT
• NM_003319.4:c.54911G>A
• NM_133378.4:c.74402G>A
• NM_133432.3:c.55286G>A
• NM_133437.4:c.55487G>A
• NP_001243779.1:p.Arg25728Lys
• NP_001254479.2:p.Arg27369Lys
• NP_003310.4:p.Arg18304Lys
• NP_596869.4:p.Arg24801Lys
• NP_597676.3:p.Arg18429Lys
• NP_597681.4:p.Arg18496Lys
• LRG_391:g.271777G>A
• NC_000002.11:g.179428753C>T
• NM_003319.4:c.54911G>A

This HGVS expression did not pass validation

Protein change:

R18304K

Links:

dbSNP: rs774715672

NCBI 1000 Genomes Browser:

rs774715672

Molecular consequence:

• NM_001256850.1:c.77183G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.82106G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.54911G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.74402G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.55286G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.55487G>A - missense variant - [Sequence Ontology: SO:0001583]