ClinVar

NM_001267550.2(TTN):c.104691G>A (p.Ser34897=)

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: 178531924 (on Assembly GRCh38)
• Chr2: 179396651 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.104691G>A (p.Ser34897=)

HGVS:

• NC_000002.12:g.178531924C>T
• NG_011618.3:g.303879G>A
• NG_051363.1:g.14098C>T
• NM_001256850.1:c.99768G>A
• NM_001267550.2:c.104691G>AMANE SELECT
• NM_003319.4:c.77496G>A
• NM_133378.4:c.96987G>A
• NM_133432.3:c.77871G>A
• NM_133437.4:c.78072G>A
• NP_001243779.1:p.Ser33256=
• NP_001254479.2:p.Ser34897=
• NP_003310.4:p.Ser25832=
• NP_596869.4:p.Ser32329=
• NP_597676.3:p.Ser25957=
• NP_597681.4:p.Ser26024=
• LRG_391:g.303879G>A
• NC_000002.11:g.179396651C>T
• NM_001267550.1:c.104691G>A
• NM_003319.4:c.77496G>A
• NM_133378.4:c.96987G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs369619711

NCBI 1000 Genomes Browser:

rs369619711

Molecular consequence:

• NM_001256850.1:c.99768G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001267550.2:c.104691G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003319.4:c.77496G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133378.4:c.96987G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133432.3:c.77871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133437.4:c.78072G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2