Linked Data
ClinVar Variation Id:
202424
dbSNP Id:
rs794729301
gnomAD v2:
2-179414036-G-A
gnomAD v3:
2-178549309-G-A
gnomAD v4:
2-178549309-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549309G>A , CM000664.2:g.178549309G>A | GRCh38 |
| NC_000002.11:g.179414036G>A , CM000664.1:g.179414036G>A | GRCh37 |
| NC_000002.10:g.179122282G>A | NCBI36 |
| NG_011618.3:g.286494C>T , LRG_391:g.286494C>T | |
| NG_051363.1:g.31483G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84613C>T (TTN) | ENSP00000343764.6:p.Arg28205Ter | |
| ENST00000342175.11:c.65698C>T (TTN) | ENSP00000340554.6:p.Arg21900Ter | |
| ENST00000359218.10:c.65497C>T (TTN) | ENSP00000352154.5:p.Arg21833Ter | |
| ENST00000342175.10:c.65698C>T (TTN) | ENSP00000340554.6:p.Arg21900Ter | |
| ENST00000342992.10:c.84613C>T (TTN) | ENSP00000343764.6:p.Arg28205Ter | |
| ENST00000359218.9:c.65497C>T (TTN) | ENSP00000352154.5:p.Arg21833Ter | |
| ENST00000460472.6:c.65122C>T (TTN) | ENSP00000434586.1:p.Arg21708Ter | |
| ENST00000589042.5:c.92317C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg30773Ter | |
| ENST00000591111.5:c.87394C>T (TTN) | ENSP00000465570.1:p.Arg29132Ter | |
| ENST00000615779.4:c.87394C>T (TTN) | ENSP00000483597.1:p.Arg29132Ter | |
| NM_001256850.1:c.87394C>T (TTN) | NP_001243779.1:p.Arg29132Ter | |
| NM_001267550.2:c.92317C>T (TTN) MANE Select | NP_001254479.2:p.Arg30773Ter | |
| NM_003319.4:c.65122C>T (TTN) | NP_003310.4:p.Arg21708Ter | |
| NM_133378.4:c.84613C>T (TTN) | NP_596869.4:p.Arg28205Ter | |
| NM_133432.3:c.65497C>T (TTN) | NP_597676.3:p.Arg21833Ter | |
| NM_133437.4:c.65698C>T (TTN) | NP_597681.4:p.Arg21900Ter | |
| NR_038271.1:n.447-21991G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+6948G>A (TTN-AS1) | ||
| XM_011511729.1:c.91414C>T (TTN) | XP_011510031.1:p.Arg30472Ter | |
| XM_011511730.1:c.65308C>T (TTN) | XP_011510032.1:p.Arg21770Ter | |
| XM_011511731.1:c.65167C>T (TTN) | XP_011510033.1:p.Arg21723Ter | |
| XM_017004819.1:c.91210C>T (TTN) | XP_016860308.1:p.Arg30404Ter | |
| XM_017004820.1:c.86608C>T (TTN) | XP_016860309.1:p.Arg28870Ter | |
| XM_017004821.1:c.86605C>T (TTN) | XP_016860310.1:p.Arg28869Ter | |
| XM_017004822.1:c.83647C>T (TTN) | XP_016860311.1:p.Arg27883Ter | |
| XM_017004823.1:c.65263C>T (TTN) | XP_016860312.1:p.Arg21755Ter | |
| XM_024453094.1:c.86758C>T (TTN) | XP_024308862.1:p.Arg28920Ter | |
| XM_024453095.1:c.86755C>T (TTN) | XP_024308863.1:p.Arg28919Ter | |
| XM_024453096.1:c.86188C>T (TTN) | XP_024308864.1:p.Arg28730Ter | |
| XM_024453097.1:c.83530C>T (TTN) | XP_024308865.1:p.Arg27844Ter | |
| XM_024453098.1:c.83449C>T (TTN) | XP_024308866.1:p.Arg27817Ter | |
| XM_024453099.1:c.65212C>T (TTN) | XP_024308867.1:p.Arg21738Ter | |
| XM_024453100.1:c.55066C>T (TTN) | XP_024308868.1:p.Arg18356Ter |