Linked Data
ClinVar Variation Id:
228109
dbSNP Id:
rs750881309
ExAC:
2:179462257 G / GT
gnomAD v2:
2-179462257-G-GT
gnomAD v3:
2-178597530-G-GT
gnomAD v4:
2-178597530-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178597531dup , CM000664.2:g.178597531dup | GRCh38 |
| NC_000002.11:g.179462258dup , CM000664.1:g.179462258dup | GRCh37 |
| NC_000002.10:g.179170504dup | NCBI36 |
| NG_011618.3:g.238272dup , LRG_391:g.238272dup | |
| NG_051363.1:g.79705dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.49840+7dup (TTN) | ENSP00000343764.6:n.49840+7dup | |
| ENST00000342175.11:c.30925+7dup (TTN) | ENSP00000340554.6:n.30925+7dup | |
| ENST00000359218.10:c.30724+7dup (TTN) | ENSP00000352154.5:n.30724+7dup | |
| ENST00000342175.10:c.30925+7dup (TTN) | ENSP00000340554.6:n.30925+7dup | |
| ENST00000342992.10:c.49840+7dup (TTN) | ENSP00000343764.6:n.49840+7dup | |
| ENST00000359218.9:c.30724+7dup (TTN) | ENSP00000352154.5:n.30724+7dup | |
| ENST00000460472.6:c.30349+7dup (TTN) | ENSP00000434586.1:n.30349+7dup | |
| ENST00000589042.5:c.57544+7dup (TTN) MANE Select | ENSP00000467141.1:n.57544+7dup | |
| ENST00000591111.5:c.52621+7dup (TTN) | ENSP00000465570.1:n.52621+7dup | |
| ENST00000615779.4:c.52621+7dup (TTN) | ENSP00000483597.1:n.52621+7dup | |
| NM_001256850.1:c.52621+7dup (TTN) | NP_001243779.1:n.52621+7dup | |
| NM_001267550.2:c.57544+7dup (TTN) MANE Select | NP_001254479.2:n.57544+7dup | |
| NM_003319.4:c.30349+7dup (TTN) | NP_003310.4:n.30349+7dup | |
| NM_133378.4:c.49840+7dup (TTN) | NP_596869.4:n.49840+7dup | |
| NM_133432.3:c.30724+7dup (TTN) | NP_597676.3:n.30724+7dup | |
| NM_133437.4:c.30925+7dup (TTN) | NP_597681.4:n.30925+7dup | |
| NR_038271.1:n.597-65dup (TTN-AS1) | ||
| NR_038272.1:n.3365-65dup (TTN-AS1) | ||
| XM_011511729.1:c.56641+7dup (TTN) | XP_011510031.1:n.56641+7dup | |
| XM_011511730.1:c.30535+7dup (TTN) | XP_011510032.1:n.30535+7dup | |
| XM_011511731.1:c.30394+7dup (TTN) | XP_011510033.1:n.30394+7dup | |
| XM_017004819.1:c.56437+7dup (TTN) | XP_016860308.1:n.56437+7dup | |
| XM_017004820.1:c.51835+7dup (TTN) | XP_016860309.1:n.51835+7dup | |
| XM_017004821.1:c.51832+7dup (TTN) | XP_016860310.1:n.51832+7dup | |
| XM_017004822.1:c.48874+7dup (TTN) | XP_016860311.1:n.48874+7dup | |
| XM_017004823.1:c.30490+7dup (TTN) | XP_016860312.1:n.30490+7dup | |
| XM_024453094.1:c.51985+7dup (TTN) | XP_024308862.1:n.51985+7dup | |
| XM_024453095.1:c.51982+7dup (TTN) | XP_024308863.1:n.51982+7dup | |
| XM_024453096.1:c.51415+7dup (TTN) | XP_024308864.1:n.51415+7dup | |
| XM_024453097.1:c.48757+7dup (TTN) | XP_024308865.1:n.48757+7dup | |
| XM_024453098.1:c.48676+7dup (TTN) | XP_024308866.1:n.48676+7dup | |
| XM_024453099.1:c.30439+7dup (TTN) | XP_024308867.1:n.30439+7dup | |
| XM_024453100.1:c.20293+7dup (TTN) | XP_024308868.1:n.20293+7dup |