Linked Data
gnomAD v2:
2-179395209-G-GTCTCTTT
MyVariant Identifiers:
chr2:g.179395209_179395210insTCTCTTT (hg19)
chr2:g.178530482_178530483insTCTCTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530482_178530483insTCTCTTT , CM000664.2:g.178530482_178530483insTCTCTTT | GRCh38 |
| NC_000002.11:g.179395209_179395210insTCTCTTT , CM000664.1:g.179395209_179395210insTCTCTTT | GRCh37 |
| NC_000002.10:g.179103455_179103456insTCTCTTT | NCBI36 |
| NG_011618.3:g.305320_305321insAAAGAGA , LRG_391:g.305320_305321insAAAGAGA | |
| NG_051363.1:g.12656_12657insTCTCTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98428_98429insAAAGAGA (TTN) | ENSP00000343764.6:p.Ala32810GlufsTer5 | |
| ENST00000342175.11:c.79513_79514insAAAGAGA (TTN) | ENSP00000340554.6:p.Ala26505GlufsTer5 | |
| ENST00000359218.10:c.79312_79313insAAAGAGA (TTN) | ENSP00000352154.5:p.Ala26438GlufsTer5 | |
| ENST00000342175.10:c.79513_79514insAAAGAGA (TTN) | ENSP00000340554.6:p.Ala26505GlufsTer5 | |
| ENST00000342992.10:c.98428_98429insAAAGAGA (TTN) | ENSP00000343764.6:p.Ala32810GlufsTer5 | |
| ENST00000359218.9:c.79312_79313insAAAGAGA (TTN) | ENSP00000352154.5:p.Ala26438GlufsTer5 | |
| ENST00000460472.6:c.78937_78938insAAAGAGA (TTN) | ENSP00000434586.1:p.Ala26313GlufsTer5 | |
| ENST00000589042.5:c.106132_106133insAAAGAGA (TTN) MANE Select | ENSP00000467141.1:p.Ala35378GlufsTer5 | |
| ENST00000591111.5:c.101209_101210insAAAGAGA (TTN) | ENSP00000465570.1:p.Ala33737GlufsTer5 | |
| ENST00000615779.4:c.101209_101210insAAAGAGA (TTN) | ENSP00000483597.1:p.Ala33737GlufsTer5 | |
| NM_001256850.1:c.101209_101210insAAAGAGA (TTN) | NP_001243779.1:p.Ala33737GlufsTer5 | |
| NM_001267550.2:c.106132_106133insAAAGAGA (TTN) MANE Select | NP_001254479.2:p.Ala35378GlufsTer5 | |
| NM_003319.4:c.78937_78938insAAAGAGA (TTN) | NP_003310.4:p.Ala26313GlufsTer5 | |
| NM_133378.4:c.98428_98429insAAAGAGA (TTN) | NP_596869.4:p.Ala32810GlufsTer5 | |
| NM_133432.3:c.79312_79313insAAAGAGA (TTN) | NP_597676.3:p.Ala26438GlufsTer5 | |
| NM_133437.4:c.79513_79514insAAAGAGA (TTN) | NP_597681.4:p.Ala26505GlufsTer5 | |
| NR_038271.1:n.446+6846_446+6847insTCTCTTT (TTN-AS1) | ||
| NR_038272.1:n.220-5250_220-5249insTCTCTTT (TTN-AS1) | ||
| XM_011511729.1:c.105229_105230insAAAGAGA (TTN) | XP_011510031.1:p.Ala35077GlufsTer5 | |
| XM_011511730.1:c.79123_79124insAAAGAGA (TTN) | XP_011510032.1:p.Ala26375GlufsTer5 | |
| XM_011511731.1:c.78982_78983insAAAGAGA (TTN) | XP_011510033.1:p.Ala26328GlufsTer5 | |
| XM_017004819.1:c.105025_105026insAAAGAGA (TTN) | XP_016860308.1:p.Ala35009GlufsTer5 | |
| XM_017004820.1:c.100423_100424insAAAGAGA (TTN) | XP_016860309.1:p.Ala33475GlufsTer5 | |
| XM_017004821.1:c.100420_100421insAAAGAGA (TTN) | XP_016860310.1:p.Ala33474GlufsTer5 | |
| XM_017004822.1:c.97462_97463insAAAGAGA (TTN) | XP_016860311.1:p.Ala32488GlufsTer5 | |
| XM_017004823.1:c.79078_79079insAAAGAGA (TTN) | XP_016860312.1:p.Ala26360GlufsTer5 | |
| XM_024453094.1:c.100573_100574insAAAGAGA (TTN) | XP_024308862.1:p.Ala33525GlufsTer5 | |
| XM_024453095.1:c.100570_100571insAAAGAGA (TTN) | XP_024308863.1:p.Ala33524GlufsTer5 | |
| XM_024453096.1:c.100003_100004insAAAGAGA (TTN) | XP_024308864.1:p.Ala33335GlufsTer5 | |
| XM_024453097.1:c.97345_97346insAAAGAGA (TTN) | XP_024308865.1:p.Ala32449GlufsTer5 | |
| XM_024453098.1:c.97264_97265insAAAGAGA (TTN) | XP_024308866.1:p.Ala32422GlufsTer5 | |
| XM_024453099.1:c.79027_79028insAAAGAGA (TTN) | XP_024308867.1:p.Ala26343GlufsTer5 | |
| XM_024453100.1:c.68881_68882insAAAGAGA (TTN) | XP_024308868.1:p.Ala22961GlufsTer5 |