ClinVar

NM_001267550.2(TTN):c.62816G>A (p.Arg20939His)

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: 178588909 (on Assembly GRCh38)
• Chr2: 179453636 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.62816G>A (p.Arg20939His)

HGVS:

• NC_000002.12:g.178588909C>T
• NG_011618.3:g.246894G>A
• NG_051363.1:g.71083C>T
• NM_001256850.1:c.57893G>A
• NM_001267550.2:c.62816G>AMANE SELECT
• NM_003319.4:c.35621G>A
• NM_133378.4:c.55112G>A
• NM_133432.3:c.35996G>A
• NM_133437.4:c.36197G>A
• NP_001243779.1:p.Arg19298His
• NP_001254479.2:p.Arg20939His
• NP_003310.4:p.Arg11874His
• NP_596869.4:p.Arg18371His
• NP_597676.3:p.Arg11999His
• NP_597681.4:p.Arg12066His
• LRG_391:g.246894G>A
• NC_000002.11:g.179453636C>T
• NM_003319.4:c.35621G>A

This HGVS expression did not pass validation

Protein change:

R11874H

Links:

dbSNP: rs777095470

Molecular consequence:

• NM_001256850.1:c.57893G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.62816G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.35621G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.55112G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.35996G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.36197G>A - missense variant - [Sequence Ontology: SO:0001583]