Linked Data
ClinVar Variation Id:
1309251
ClinVar RCV Id:
RCV001765420
dbSNP Id:
rs1227910087
gnomAD v3:
2-178552652-C-CTTA
gnomAD v4:
2-178552652-C-CTTA
MyVariant Identifiers:
chr2:g.179417379_179417380insTTA (hg19)
chr2:g.178552652_178552653insTTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178552654_178552656dup , CM000664.2:g.178552654_178552656dup | GRCh38 |
| NC_000002.11:g.179417381_179417383dup , CM000664.1:g.179417381_179417383dup | GRCh37 |
| NC_000002.10:g.179125627_179125629dup | NCBI36 |
| NG_011618.3:g.283148_283150dup , LRG_391:g.283148_283150dup | |
| NG_051363.1:g.34828_34830dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.82541_82543dup (TTN) | ENSP00000343764.6:p.Ile27514_Ser27515insI... | |
| ENST00000342175.11:c.63626_63628dup (TTN) | ENSP00000340554.6:p.Ile21209_Ser21210insI... | |
| ENST00000359218.10:c.63425_63427dup (TTN) | ENSP00000352154.5:p.Ile21142_Ser21143insI... | |
| ENST00000342175.10:c.63626_63628dup (TTN) | ENSP00000340554.6:p.Ile21209_Ser21210insI... | |
| ENST00000342992.10:c.82541_82543dup (TTN) | ENSP00000343764.6:p.Ile27514_Ser27515insI... | |
| ENST00000359218.9:c.63425_63427dup (TTN) | ENSP00000352154.5:p.Ile21142_Ser21143insI... | |
| ENST00000460472.6:c.63050_63052dup (TTN) | ENSP00000434586.1:p.Ile21017_Ser21018insI... | |
| ENST00000589042.5:c.90245_90247dup (TTN) MANE Select | ENSP00000467141.1:p.Ile30082_Ser30083insI... | |
| ENST00000591111.5:c.85322_85324dup (TTN) | ENSP00000465570.1:p.Ile28441_Ser28442insI... | |
| ENST00000615779.4:c.85322_85324dup (TTN) | ENSP00000483597.1:p.Ile28441_Ser28442insI... | |
| NM_001256850.1:c.85322_85324dup (TTN) | NP_001243779.1:p.Ile28441_Ser28442insIle | |
| NM_001267550.2:c.90245_90247dup (TTN) MANE Select | NP_001254479.2:p.Ile30082_Ser30083insIle | |
| NM_003319.4:c.63050_63052dup (TTN) | NP_003310.4:p.Ile21017_Ser21018insIle | |
| NM_133378.4:c.82541_82543dup (TTN) | NP_596869.4:p.Ile27514_Ser27515insIle | |
| NM_133432.3:c.63425_63427dup (TTN) | NP_597676.3:p.Ile21142_Ser21143insIle | |
| NM_133437.4:c.63626_63628dup (TTN) | NP_597681.4:p.Ile21209_Ser21210insIle | |
| NR_038271.1:n.447-18646_447-18644dup (TTN-AS1) | ||
| NR_038272.1:n.2043+10293_2043+10295dup (TTN-AS1) | ||
| XM_011511729.1:c.89342_89344dup (TTN) | XP_011510031.1:p.Ile29781_Ser29782insIle | |
| XM_011511730.1:c.63236_63238dup (TTN) | XP_011510032.1:p.Ile21079_Ser21080insIle | |
| XM_011511731.1:c.63095_63097dup (TTN) | XP_011510033.1:p.Ile21032_Ser21033insIle | |
| XM_017004819.1:c.89138_89140dup (TTN) | XP_016860308.1:p.Ile29713_Ser29714insIle | |
| XM_017004820.1:c.84536_84538dup (TTN) | XP_016860309.1:p.Ile28179_Ser28180insIle | |
| XM_017004821.1:c.84533_84535dup (TTN) | XP_016860310.1:p.Ile28178_Ser28179insIle | |
| XM_017004822.1:c.81575_81577dup (TTN) | XP_016860311.1:p.Ile27192_Ser27193insIle | |
| XM_017004823.1:c.63191_63193dup (TTN) | XP_016860312.1:p.Ile21064_Ser21065insIle | |
| XM_024453094.1:c.84686_84688dup (TTN) | XP_024308862.1:p.Ile28229_Ser28230insIle | |
| XM_024453095.1:c.84683_84685dup (TTN) | XP_024308863.1:p.Ile28228_Ser28229insIle | |
| XM_024453096.1:c.84116_84118dup (TTN) | XP_024308864.1:p.Ile28039_Ser28040insIle | |
| XM_024453097.1:c.81458_81460dup (TTN) | XP_024308865.1:p.Ile27153_Ser27154insIle | |
| XM_024453098.1:c.81377_81379dup (TTN) | XP_024308866.1:p.Ile27126_Ser27127insIle | |
| XM_024453099.1:c.63140_63142dup (TTN) | XP_024308867.1:p.Ile21047_Ser21048insIle | |
| XM_024453100.1:c.52994_52996dup (TTN) | XP_024308868.1:p.Ile17665_Ser17666insIle |