Linked Data
ClinVar Variation Id:
202404
dbSNP Id:
rs794729284
gnomAD v2:
2-179437013-G-A
gnomAD v3:
2-178572286-G-A
gnomAD v4:
2-178572286-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178572286G>A , CM000664.2:g.178572286G>A | GRCh38 |
| NC_000002.11:g.179437013G>A , CM000664.1:g.179437013G>A | GRCh37 |
| NC_000002.10:g.179145259G>A | NCBI36 |
| NG_011618.3:g.263517C>T , LRG_391:g.263517C>T | |
| NG_051363.1:g.54460G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66142C>T (TTN) | ENSP00000343764.6:p.Arg22048Ter | |
| ENST00000342175.11:c.47227C>T (TTN) | ENSP00000340554.6:p.Arg15743Ter | |
| ENST00000359218.10:c.47026C>T (TTN) | ENSP00000352154.5:p.Arg15676Ter | |
| ENST00000342175.10:c.47227C>T (TTN) | ENSP00000340554.6:p.Arg15743Ter | |
| ENST00000342992.10:c.66142C>T (TTN) | ENSP00000343764.6:p.Arg22048Ter | |
| ENST00000359218.9:c.47026C>T (TTN) | ENSP00000352154.5:p.Arg15676Ter | |
| ENST00000460472.6:c.46651C>T (TTN) | ENSP00000434586.1:p.Arg15551Ter | |
| ENST00000589042.5:c.73846C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg24616Ter | |
| ENST00000591111.5:c.68923C>T (TTN) | ENSP00000465570.1:p.Arg22975Ter | |
| ENST00000615779.4:c.68923C>T (TTN) | ENSP00000483597.1:p.Arg22975Ter | |
| NM_001256850.1:c.68923C>T (TTN) | NP_001243779.1:p.Arg22975Ter | |
| NM_001267550.2:c.73846C>T (TTN) MANE Select | NP_001254479.2:p.Arg24616Ter | |
| NM_003319.4:c.46651C>T (TTN) | NP_003310.4:p.Arg15551Ter | |
| NM_133378.4:c.66142C>T (TTN) | NP_596869.4:p.Arg22048Ter | |
| NM_133432.3:c.47026C>T (TTN) | NP_597676.3:p.Arg15676Ter | |
| NM_133437.4:c.47227C>T (TTN) | NP_597681.4:p.Arg15743Ter | |
| NR_038271.1:n.596+837G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-10286G>A (TTN-AS1) | ||
| XM_011511729.1:c.72943C>T (TTN) | XP_011510031.1:p.Arg24315Ter | |
| XM_011511730.1:c.46837C>T (TTN) | XP_011510032.1:p.Arg15613Ter | |
| XM_011511731.1:c.46696C>T (TTN) | XP_011510033.1:p.Arg15566Ter | |
| XM_017004819.1:c.72739C>T (TTN) | XP_016860308.1:p.Arg24247Ter | |
| XM_017004820.1:c.68137C>T (TTN) | XP_016860309.1:p.Arg22713Ter | |
| XM_017004821.1:c.68134C>T (TTN) | XP_016860310.1:p.Arg22712Ter | |
| XM_017004822.1:c.65176C>T (TTN) | XP_016860311.1:p.Arg21726Ter | |
| XM_017004823.1:c.46792C>T (TTN) | XP_016860312.1:p.Arg15598Ter | |
| XM_024453094.1:c.68287C>T (TTN) | XP_024308862.1:p.Arg22763Ter | |
| XM_024453095.1:c.68284C>T (TTN) | XP_024308863.1:p.Arg22762Ter | |
| XM_024453096.1:c.67717C>T (TTN) | XP_024308864.1:p.Arg22573Ter | |
| XM_024453097.1:c.65059C>T (TTN) | XP_024308865.1:p.Arg21687Ter | |
| XM_024453098.1:c.64978C>T (TTN) | XP_024308866.1:p.Arg21660Ter | |
| XM_024453099.1:c.46741C>T (TTN) | XP_024308867.1:p.Arg15581Ter | |
| XM_024453100.1:c.36595C>T (TTN) | XP_024308868.1:p.Arg12199Ter |