ClinVar

NM_001267550.2(TTN):c.106387G>A (p.Gly35463Arg)

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: 178530104 (on Assembly GRCh38)
• Chr2: 179394831 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.106387G>A (p.Gly35463Arg)

HGVS:

• NC_000002.12:g.178530104C>T
• NG_011618.3:g.305699G>A
• NG_051363.1:g.12278C>T
• NM_001256850.1:c.101464G>A
• NM_001267550.2:c.106387G>AMANE SELECT
• NM_003319.4:c.79192G>A
• NM_133378.4:c.98683G>A
• NM_133432.3:c.79567G>A
• NM_133437.4:c.79768G>A
• NP_001243779.1:p.Gly33822Arg
• NP_001254479.2:p.Gly35463Arg
• NP_003310.4:p.Gly26398Arg
• NP_596869.4:p.Gly32895Arg
• NP_597676.3:p.Gly26523Arg
• NP_597681.4:p.Gly26590Arg
• LRG_391:g.305699G>A
• NC_000002.11:g.179394831C>T

This HGVS expression did not pass validation

Protein change:

G26398R

Links:

dbSNP: rs1474079403

NCBI 1000 Genomes Browser:

rs1474079403

Molecular consequence:

• NM_001256850.1:c.101464G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.106387G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.79192G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.98683G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.79567G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.79768G>A - missense variant - [Sequence Ontology: SO:0001583]