ClinVar

NM_001267550.2(TTN):c.732C>T (p.Ala244=)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178799669 (on Assembly GRCh38)
• Chr2: 179664396 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.732C>T (p.Ala244=)

HGVS:

• NC_000002.12:g.178799669G>A
• NG_011618.3:g.36134C>T
• NM_001256850.1:c.732C>T
• NM_001267550.2:c.732C>TMANE SELECT
• NM_003319.4:c.732C>T
• NM_133378.4:c.732C>T
• NM_133379.5:c.732C>T
• NM_133432.3:c.732C>T
• NM_133437.4:c.732C>T
• NP_001243779.1:p.Ala244=
• NP_001254479.2:p.Ala244=
• NP_003310.4:p.Ala244=
• NP_596869.4:p.Ala244=
• NP_596870.2:p.Ala244=
• NP_597676.3:p.Ala244=
• NP_597681.4:p.Ala244=
• LRG_391:g.36134C>T
• NC_000002.11:g.179664396G>A
• NM_003319.4:c.732C>T
• p.Ala244Ala

This HGVS expression did not pass validation

Links:

dbSNP: rs761859812

NCBI 1000 Genomes Browser:

rs761859812

Molecular consequence:

• NM_001256850.1:c.732C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001267550.2:c.732C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003319.4:c.732C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133378.4:c.732C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133379.5:c.732C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133432.3:c.732C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133437.4:c.732C>T - synonymous variant - [Sequence Ontology: SO:0001819]