ClinVar

NM_001267550.2(TTN):c.46304+2T>G

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: 178620215 (on Assembly GRCh38)
• Chr2: 179484942 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.46304+2T>G

HGVS:

• NC_000002.12:g.178620215A>C
• NG_011618.3:g.215588T>G
• NG_051363.1:g.102389A>C
• NM_001256850.1:c.41381+2T>G
• NM_001267550.2:c.46304+2T>GMANE SELECT
• NM_003319.4:c.19109+2T>G
• NM_133378.4:c.38600+2T>G
• NM_133432.3:c.19484+2T>G
• NM_133437.4:c.19685+2T>G
• LRG_391:g.215588T>G
• NC_000002.11:g.179484942A>C
• NR_038271.1:n.2067A>C

This HGVS expression did not pass validation

Molecular consequence:

• NR_038271.1:n.2067A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001256850.1:c.41381+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001267550.2:c.46304+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_003319.4:c.19109+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_133378.4:c.38600+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_133432.3:c.19484+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_133437.4:c.19685+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]