MyVariant.info:
GRCh37
chr2:g.179396804A>C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532077A>C , CM000664.2:g.178532077A>C | GRCh38 |
| NC_000002.11:g.179396804A>C , CM000664.1:g.179396804A>C | GRCh37 |
| NC_000002.10:g.179105050A>C | NCBI36 |
| NG_011618.3:g.303726T>G , LRG_391:g.303726T>G | |
| NG_051363.1:g.14251A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96834T>G (TTN) | ENSP00000343764.6:p.Thr32278= | |
| ENST00000342175.11:c.77919T>G (TTN) | ENSP00000340554.6:p.Thr25973= | |
| ENST00000359218.10:c.77718T>G (TTN) | ENSP00000352154.5:p.Thr25906= | |
| ENST00000342175.10:c.77919T>G (TTN) | ENSP00000340554.6:p.Thr25973= | |
| ENST00000342992.10:c.96834T>G (TTN) | ENSP00000343764.6:p.Thr32278= | |
| ENST00000359218.9:c.77718T>G (TTN) | ENSP00000352154.5:p.Thr25906= | |
| ENST00000460472.6:c.77343T>G (TTN) | ENSP00000434586.1:p.Thr25781= | |
| ENST00000589042.5:c.104538T>G (TTN) MANE Select | ENSP00000467141.1:p.Thr34846= | |
| ENST00000591111.5:c.99615T>G (TTN) | ENSP00000465570.1:p.Thr33205= | |
| ENST00000615779.4:c.99615T>G (TTN) | ENSP00000483597.1:p.Thr33205= | |
| NM_001256850.1:c.99615T>G (TTN) | NP_001243779.1:p.Thr33205= | |
| NM_001267550.2:c.104538T>G (TTN) MANE Select | NP_001254479.2:p.Thr34846= | |
| NM_003319.4:c.77343T>G (TTN) | NP_003310.4:p.Thr25781= | |
| NM_133378.4:c.96834T>G (TTN) | NP_596869.4:p.Thr32278= | |
| NM_133432.3:c.77718T>G (TTN) | NP_597676.3:p.Thr25906= | |
| NM_133437.4:c.77919T>G (TTN) | NP_597681.4:p.Thr25973= | |
| NR_038271.1:n.446+8441A>C (TTN-AS1) | ||
| NR_038272.1:n.220-3655A>C (TTN-AS1) | ||
| XM_011511729.1:c.103635T>G (TTN) | XP_011510031.1:p.Thr34545= | |
| XM_011511730.1:c.77529T>G (TTN) | XP_011510032.1:p.Thr25843= | |
| XM_011511731.1:c.77388T>G (TTN) | XP_011510033.1:p.Thr25796= | |
| XM_017004819.1:c.103431T>G (TTN) | XP_016860308.1:p.Thr34477= | |
| XM_017004820.1:c.98829T>G (TTN) | XP_016860309.1:p.Thr32943= | |
| XM_017004821.1:c.98826T>G (TTN) | XP_016860310.1:p.Thr32942= | |
| XM_017004822.1:c.95868T>G (TTN) | XP_016860311.1:p.Thr31956= | |
| XM_017004823.1:c.77484T>G (TTN) | XP_016860312.1:p.Thr25828= | |
| XM_024453094.1:c.98979T>G (TTN) | XP_024308862.1:p.Thr32993= | |
| XM_024453095.1:c.98976T>G (TTN) | XP_024308863.1:p.Thr32992= | |
| XM_024453096.1:c.98409T>G (TTN) | XP_024308864.1:p.Thr32803= | |
| XM_024453097.1:c.95751T>G (TTN) | XP_024308865.1:p.Thr31917= | |
| XM_024453098.1:c.95670T>G (TTN) | XP_024308866.1:p.Thr31890= | |
| XM_024453099.1:c.77433T>G (TTN) | XP_024308867.1:p.Thr25811= | |
| XM_024453100.1:c.67287T>G (TTN) | XP_024308868.1:p.Thr22429= |