ClinVar

NM_001267550.2(TTN):c.79062T>A (p.Gly26354=)

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: 178567070 (on Assembly GRCh38)
• Chr2: 179431797 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.79062T>A (p.Gly26354=)

Other names:

p.G23786G:GGT>GGA

HGVS:

• NC_000002.12:g.178567070A>T
• NG_011618.3:g.268733T>A
• NG_051363.1:g.49244A>T
• NM_001256850.1:c.74139T>A
• NM_001267550.2:c.79062T>AMANE SELECT
• NM_003319.4:c.51867T>A
• NM_133378.4:c.71358T>A
• NM_133432.3:c.52242T>A
• NM_133437.4:c.52443T>A
• NP_001243779.1:p.Gly24713=
• NP_001254479.1:p.Gly26354=
• NP_001254479.2:p.Gly26354=
• NP_003310.4:p.Gly17289=
• NP_596869.4:p.Gly23786=
• NP_597676.3:p.Gly17414=
• NP_597681.4:p.Gly17481=
• LRG_391t1:c.79062T>A
• LRG_391:g.268733T>A
• LRG_391p1:p.Gly26354=
• NC_000002.11:g.179431797A>T
• NM_001267550.1:c.79062T>A
• NM_133379.3:c.*178515T>A
• NP_596869.4:p.(=)
• c.71358T>A
• p.Gly23786Gly

This HGVS expression did not pass validation

Links:

dbSNP: rs3731744

NCBI 1000 Genomes Browser:

rs3731744

Molecular consequence:

• NM_001256850.1:c.74139T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001267550.2:c.79062T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003319.4:c.51867T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133378.4:c.71358T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133432.3:c.52242T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133437.4:c.52443T>A - synonymous variant - [Sequence Ontology: SO:0001819]