Linked Data
ClinVar Variation Id:
202523
dbSNP Id:
rs794729384
gnomAD v2:
2-179424743-G-A
gnomAD v3:
2-178560016-G-A
gnomAD v4:
2-178560016-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560016G>A , CM000664.2:g.178560016G>A | GRCh38 |
| NC_000002.11:g.179424743G>A , CM000664.1:g.179424743G>A | GRCh37 |
| NC_000002.10:g.179132989G>A | NCBI36 |
| NG_011618.3:g.275787C>T , LRG_391:g.275787C>T | |
| NG_051363.1:g.42190G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.78412C>T (TTN) | ENSP00000343764.6:p.Arg26138Ter | |
| ENST00000342175.11:c.59497C>T (TTN) | ENSP00000340554.6:p.Arg19833Ter | |
| ENST00000359218.10:c.59296C>T (TTN) | ENSP00000352154.5:p.Arg19766Ter | |
| ENST00000342175.10:c.59497C>T (TTN) | ENSP00000340554.6:p.Arg19833Ter | |
| ENST00000342992.10:c.78412C>T (TTN) | ENSP00000343764.6:p.Arg26138Ter | |
| ENST00000359218.9:c.59296C>T (TTN) | ENSP00000352154.5:p.Arg19766Ter | |
| ENST00000460472.6:c.58921C>T (TTN) | ENSP00000434586.1:p.Arg19641Ter | |
| ENST00000589042.5:c.86116C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg28706Ter | |
| ENST00000591111.5:c.81193C>T (TTN) | ENSP00000465570.1:p.Arg27065Ter | |
| ENST00000615779.4:c.81193C>T (TTN) | ENSP00000483597.1:p.Arg27065Ter | |
| NM_001256850.1:c.81193C>T (TTN) | NP_001243779.1:p.Arg27065Ter | |
| NM_001267550.2:c.86116C>T (TTN) MANE Select | NP_001254479.2:p.Arg28706Ter | |
| NM_003319.4:c.58921C>T (TTN) | NP_003310.4:p.Arg19641Ter | |
| NM_133378.4:c.78412C>T (TTN) | NP_596869.4:p.Arg26138Ter | |
| NM_133432.3:c.59296C>T (TTN) | NP_597676.3:p.Arg19766Ter | |
| NM_133437.4:c.59497C>T (TTN) | NP_597681.4:p.Arg19833Ter | |
| NR_038271.1:n.447-11284G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+17655G>A (TTN-AS1) | ||
| XM_011511729.1:c.85213C>T (TTN) | XP_011510031.1:p.Arg28405Ter | |
| XM_011511730.1:c.59107C>T (TTN) | XP_011510032.1:p.Arg19703Ter | |
| XM_011511731.1:c.58966C>T (TTN) | XP_011510033.1:p.Arg19656Ter | |
| XM_017004819.1:c.85009C>T (TTN) | XP_016860308.1:p.Arg28337Ter | |
| XM_017004820.1:c.80407C>T (TTN) | XP_016860309.1:p.Arg26803Ter | |
| XM_017004821.1:c.80404C>T (TTN) | XP_016860310.1:p.Arg26802Ter | |
| XM_017004822.1:c.77446C>T (TTN) | XP_016860311.1:p.Arg25816Ter | |
| XM_017004823.1:c.59062C>T (TTN) | XP_016860312.1:p.Arg19688Ter | |
| XM_024453094.1:c.80557C>T (TTN) | XP_024308862.1:p.Arg26853Ter | |
| XM_024453095.1:c.80554C>T (TTN) | XP_024308863.1:p.Arg26852Ter | |
| XM_024453096.1:c.79987C>T (TTN) | XP_024308864.1:p.Arg26663Ter | |
| XM_024453097.1:c.77329C>T (TTN) | XP_024308865.1:p.Arg25777Ter | |
| XM_024453098.1:c.77248C>T (TTN) | XP_024308866.1:p.Arg25750Ter | |
| XM_024453099.1:c.59011C>T (TTN) | XP_024308867.1:p.Arg19671Ter | |
| XM_024453100.1:c.48865C>T (TTN) | XP_024308868.1:p.Arg16289Ter |