MyVariant.info:
GRCh37
chr2:g.179451341A>C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586614A>C , CM000664.2:g.178586614A>C | GRCh38 |
| NC_000002.11:g.179451341A>C , CM000664.1:g.179451341A>C | GRCh37 |
| NC_000002.10:g.179159587A>C | NCBI36 |
| NG_011618.3:g.249189T>G , LRG_391:g.249189T>G | |
| NG_051363.1:g.68788A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56583T>G (TTN) | ENSP00000343764.6:p.Thr18861= | |
| ENST00000342175.11:c.37668T>G (TTN) | ENSP00000340554.6:p.Thr12556= | |
| ENST00000359218.10:c.37467T>G (TTN) | ENSP00000352154.5:p.Thr12489= | |
| ENST00000342175.10:c.37668T>G (TTN) | ENSP00000340554.6:p.Thr12556= | |
| ENST00000342992.10:c.56583T>G (TTN) | ENSP00000343764.6:p.Thr18861= | |
| ENST00000359218.9:c.37467T>G (TTN) | ENSP00000352154.5:p.Thr12489= | |
| ENST00000460472.6:c.37092T>G (TTN) | ENSP00000434586.1:p.Thr12364= | |
| ENST00000589042.5:c.64287T>G (TTN) MANE Select | ENSP00000467141.1:p.Thr21429= | |
| ENST00000591111.5:c.59364T>G (TTN) | ENSP00000465570.1:p.Thr19788= | |
| ENST00000615779.4:c.59364T>G (TTN) | ENSP00000483597.1:p.Thr19788= | |
| NM_001256850.1:c.59364T>G (TTN) | NP_001243779.1:p.Thr19788= | |
| NM_001267550.2:c.64287T>G (TTN) MANE Select | NP_001254479.2:p.Thr21429= | |
| NM_003319.4:c.37092T>G (TTN) | NP_003310.4:p.Thr12364= | |
| NM_133378.4:c.56583T>G (TTN) | NP_596869.4:p.Thr18861= | |
| NM_133432.3:c.37467T>G (TTN) | NP_597676.3:p.Thr12489= | |
| NM_133437.4:c.37668T>G (TTN) | NP_597681.4:p.Thr12556= | |
| NR_038271.1:n.597-10982A>C (TTN-AS1) | ||
| NR_038272.1:n.3188+1621A>C (TTN-AS1) | ||
| XM_011511729.1:c.63384T>G (TTN) | XP_011510031.1:p.Thr21128= | |
| XM_011511730.1:c.37278T>G (TTN) | XP_011510032.1:p.Thr12426= | |
| XM_011511731.1:c.37137T>G (TTN) | XP_011510033.1:p.Thr12379= | |
| XM_017004819.1:c.63180T>G (TTN) | XP_016860308.1:p.Thr21060= | |
| XM_017004820.1:c.58578T>G (TTN) | XP_016860309.1:p.Thr19526= | |
| XM_017004821.1:c.58575T>G (TTN) | XP_016860310.1:p.Thr19525= | |
| XM_017004822.1:c.55617T>G (TTN) | XP_016860311.1:p.Thr18539= | |
| XM_017004823.1:c.37233T>G (TTN) | XP_016860312.1:p.Thr12411= | |
| XM_024453094.1:c.58728T>G (TTN) | XP_024308862.1:p.Thr19576= | |
| XM_024453095.1:c.58725T>G (TTN) | XP_024308863.1:p.Thr19575= | |
| XM_024453096.1:c.58158T>G (TTN) | XP_024308864.1:p.Thr19386= | |
| XM_024453097.1:c.55500T>G (TTN) | XP_024308865.1:p.Thr18500= | |
| XM_024453098.1:c.55419T>G (TTN) | XP_024308866.1:p.Thr18473= | |
| XM_024453099.1:c.37182T>G (TTN) | XP_024308867.1:p.Thr12394= | |
| XM_024453100.1:c.27036T>G (TTN) | XP_024308868.1:p.Thr9012= |