ClinVar

NM_001267550.2(TTN):c.12845T>A (p.Ile4282Asn)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178740388 (on Assembly GRCh38)
• Chr2: 179605115 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.12845T>A (p.Ile4282Asn)

HGVS:

• NC_000002.12:g.178740388A>T
• NG_011618.3:g.95415T>A
• NM_001256850.1:c.11894T>A
• NM_001267550.2:c.12845T>AMANE SELECT
• NM_003319.4:c.11756T>A
• NM_133378.4:c.10361-2028T>A
• NM_133432.3:c.12131T>A
• NM_133437.4:c.12332T>A
• NP_001243779.1:p.Ile3965Asn
• NP_001254479.2:p.Ile4282Asn
• NP_003310.4:p.Ile3919Asn
• NP_597676.3:p.Ile4044Asn
• NP_597681.4:p.Ile4111Asn
• LRG_391:g.95415T>A
• NC_000002.11:g.179605115A>T
• NM_001267550.1:c.12845T>A

This HGVS expression did not pass validation

Protein change:

I3919N

Links:

dbSNP: rs747907234

NCBI 1000 Genomes Browser:

rs747907234

Molecular consequence:

• NM_133378.4:c.10361-2028T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256850.1:c.11894T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.12845T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.11756T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.12131T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.12332T>A - missense variant - [Sequence Ontology: SO:0001583]