ClinVar

NM_001267550.2(TTN):c.104592G>A (p.Pro34864=)

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: 178532023 (on Assembly GRCh38)
• Chr2: 179396750 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.104592G>A (p.Pro34864=)

Other names:

p.P33223P:CCG>CCA

HGVS:

• NC_000002.12:g.178532023C>T
• NG_011618.3:g.303780G>A
• NG_051363.1:g.14197C>T
• NM_001256850.1:c.99669G>A
• NM_001267550.2:c.104592G>AMANE SELECT
• NM_003319.4:c.77397G>A
• NM_133378.4:c.96888G>A
• NM_133432.3:c.77772G>A
• NM_133437.4:c.77973G>A
• NP_001243779.1:p.Pro33223=
• NP_001254479.1:p.Pro34864=
• NP_001254479.2:p.Pro34864=
• NP_003310.4:p.Pro25799=
• NP_596869.4:p.Pro32296=
• NP_597676.3:p.Pro25924=
• NP_597681.4:p.Pro25991=
• LRG_391t1:c.104592G>A
• LRG_391:g.303780G>A
• LRG_391p1:p.Pro34864=
• NC_000002.11:g.179396750C>T
• NM_001267550.1:c.104592G>A
• NM_003319.4:c.77397G>A
• NM_133379.3:c.*213562G>A
• p.Pro32296Pro

This HGVS expression did not pass validation

Links:

dbSNP: rs144094650

NCBI 1000 Genomes Browser:

rs144094650

Molecular consequence:

• NM_001256850.1:c.99669G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001267550.2:c.104592G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003319.4:c.77397G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133378.4:c.96888G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133432.3:c.77772G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133437.4:c.77973G>A - synonymous variant - [Sequence Ontology: SO:0001819]