Linked Data
ClinVar Variation Id:
202402
dbSNP Id:
rs781540455
gnomAD v2:
2-179440697-G-A
gnomAD v3:
2-178575970-G-A
gnomAD v4:
2-178575970-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575970G>A , CM000664.2:g.178575970G>A | GRCh38 |
| NC_000002.11:g.179440697G>A , CM000664.1:g.179440697G>A | GRCh37 |
| NC_000002.10:g.179148943G>A | NCBI36 |
| NG_011618.3:g.259833C>T , LRG_391:g.259833C>T | |
| NG_051363.1:g.58144G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62458C>T (TTN) | ENSP00000343764.6:p.Arg20820Ter | |
| ENST00000342175.11:c.43543C>T (TTN) | ENSP00000340554.6:p.Arg14515Ter | |
| ENST00000359218.10:c.43342C>T (TTN) | ENSP00000352154.5:p.Arg14448Ter | |
| ENST00000342175.10:c.43543C>T (TTN) | ENSP00000340554.6:p.Arg14515Ter | |
| ENST00000342992.10:c.62458C>T (TTN) | ENSP00000343764.6:p.Arg20820Ter | |
| ENST00000359218.9:c.43342C>T (TTN) | ENSP00000352154.5:p.Arg14448Ter | |
| ENST00000460472.6:c.42967C>T (TTN) | ENSP00000434586.1:p.Arg14323Ter | |
| ENST00000589042.5:c.70162C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg23388Ter | |
| ENST00000591111.5:c.65239C>T (TTN) | ENSP00000465570.1:p.Arg21747Ter | |
| ENST00000615779.4:c.65239C>T (TTN) | ENSP00000483597.1:p.Arg21747Ter | |
| NM_001256850.1:c.65239C>T (TTN) | NP_001243779.1:p.Arg21747Ter | |
| NM_001267550.2:c.70162C>T (TTN) MANE Select | NP_001254479.2:p.Arg23388Ter | |
| NM_003319.4:c.42967C>T (TTN) | NP_003310.4:p.Arg14323Ter | |
| NM_133378.4:c.62458C>T (TTN) | NP_596869.4:p.Arg20820Ter | |
| NM_133432.3:c.43342C>T (TTN) | NP_597676.3:p.Arg14448Ter | |
| NM_133437.4:c.43543C>T (TTN) | NP_597681.4:p.Arg14515Ter | |
| NR_038271.1:n.596+4521G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-6602G>A (TTN-AS1) | ||
| XM_011511729.1:c.69259C>T (TTN) | XP_011510031.1:p.Arg23087Ter | |
| XM_011511730.1:c.43153C>T (TTN) | XP_011510032.1:p.Arg14385Ter | |
| XM_011511731.1:c.43012C>T (TTN) | XP_011510033.1:p.Arg14338Ter | |
| XM_017004819.1:c.69055C>T (TTN) | XP_016860308.1:p.Arg23019Ter | |
| XM_017004820.1:c.64453C>T (TTN) | XP_016860309.1:p.Arg21485Ter | |
| XM_017004821.1:c.64450C>T (TTN) | XP_016860310.1:p.Arg21484Ter | |
| XM_017004822.1:c.61492C>T (TTN) | XP_016860311.1:p.Arg20498Ter | |
| XM_017004823.1:c.43108C>T (TTN) | XP_016860312.1:p.Arg14370Ter | |
| XM_024453094.1:c.64603C>T (TTN) | XP_024308862.1:p.Arg21535Ter | |
| XM_024453095.1:c.64600C>T (TTN) | XP_024308863.1:p.Arg21534Ter | |
| XM_024453096.1:c.64033C>T (TTN) | XP_024308864.1:p.Arg21345Ter | |
| XM_024453097.1:c.61375C>T (TTN) | XP_024308865.1:p.Arg20459Ter | |
| XM_024453098.1:c.61294C>T (TTN) | XP_024308866.1:p.Arg20432Ter | |
| XM_024453099.1:c.43057C>T (TTN) | XP_024308867.1:p.Arg14353Ter | |
| XM_024453100.1:c.32911C>T (TTN) | XP_024308868.1:p.Arg10971Ter |