ClinVar

NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys)

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: 178771366 (on Assembly GRCh38)
• Chr2: 179636093 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys)

Other names:

p.R2654K:AGG>AAG

HGVS:

• NC_000002.12:g.178771366C>T
• NG_011618.3:g.64437G>A
• NM_001256850.1:c.7961G>A
• NM_001267550.2:c.7961G>AMANE SELECT
• NM_003319.4:c.7823G>A
• NM_133378.4:c.7961G>A
• NM_133379.5:c.7961G>A
• NM_133432.3:c.7823G>A
• NM_133437.4:c.7823G>A
• NP_001243779.1:p.Arg2654Lys
• NP_001254479.2:p.Arg2654Lys
• NP_003310.4:p.Arg2608Lys
• NP_596869.4:p.Arg2654Lys
• NP_596870.2:p.Arg2654Lys
• NP_597676.3:p.Arg2608Lys
• NP_597681.4:p.Arg2608Lys
• LRG_391t1:c.7961G>A
• LRG_391:g.64437G>A
• NC_000002.11:g.179636093C>T
• NM_001267550.1:c.7961G>A
• NM_003319.4:c.7823G>A
• c.7961G>A

This HGVS expression did not pass validation

Protein change:

R2608K

Links:

dbSNP: rs147207100

NCBI 1000 Genomes Browser:

rs147207100

Molecular consequence:

• NM_001256850.1:c.7961G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.7961G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.7823G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.7961G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133379.5:c.7961G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.7823G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.7823G>A - missense variant - [Sequence Ontology: SO:0001583]