MyVariant.info:
GRCh37
chr2:g.179472213T>G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607486T>G , CM000664.2:g.178607486T>G | GRCh38 |
| NC_000002.11:g.179472213T>G , CM000664.1:g.179472213T>G | GRCh37 |
| NC_000002.10:g.179180458T>G | NCBI36 |
| NG_011618.3:g.228317A>C , LRG_391:g.228317A>C | |
| NG_051363.1:g.89660T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45498A>C (TTN) | ENSP00000343764.6:p.Ala15166= | |
| ENST00000342175.11:c.26583A>C (TTN) | ENSP00000340554.6:p.Ala8861= | |
| ENST00000359218.10:c.26382A>C (TTN) | ENSP00000352154.5:p.Ala8794= | |
| ENST00000342175.10:c.26583A>C (TTN) | ENSP00000340554.6:p.Ala8861= | |
| ENST00000342992.10:c.45498A>C (TTN) | ENSP00000343764.6:p.Ala15166= | |
| ENST00000359218.9:c.26382A>C (TTN) | ENSP00000352154.5:p.Ala8794= | |
| ENST00000460472.6:c.26007A>C (TTN) | ENSP00000434586.1:p.Ala8669= | |
| ENST00000589042.5:c.53202A>C (TTN) MANE Select | ENSP00000467141.1:p.Ala17734= | |
| ENST00000591111.5:c.48279A>C (TTN) | ENSP00000465570.1:p.Ala16093= | |
| ENST00000615779.4:c.48279A>C (TTN) | ENSP00000483597.1:p.Ala16093= | |
| NM_001256850.1:c.48279A>C (TTN) | NP_001243779.1:p.Ala16093= | |
| NM_001267550.2:c.53202A>C (TTN) MANE Select | NP_001254479.2:p.Ala17734= | |
| NM_003319.4:c.26007A>C (TTN) | NP_003310.4:p.Ala8669= | |
| NM_133378.4:c.45498A>C (TTN) | NP_596869.4:p.Ala15166= | |
| NM_133432.3:c.26382A>C (TTN) | NP_597676.3:p.Ala8794= | |
| NM_133437.4:c.26583A>C (TTN) | NP_597681.4:p.Ala8861= | |
| NR_038271.1:n.683-681T>G (TTN-AS1) | ||
| XM_011511729.1:c.52299A>C (TTN) | XP_011510031.1:p.Ala17433= | |
| XM_011511730.1:c.26193A>C (TTN) | XP_011510032.1:p.Ala8731= | |
| XM_011511731.1:c.26052A>C (TTN) | XP_011510033.1:p.Ala8684= | |
| XM_017004819.1:c.52095A>C (TTN) | XP_016860308.1:p.Ala17365= | |
| XM_017004820.1:c.47493A>C (TTN) | XP_016860309.1:p.Ala15831= | |
| XM_017004821.1:c.47490A>C (TTN) | XP_016860310.1:p.Ala15830= | |
| XM_017004822.1:c.44532A>C (TTN) | XP_016860311.1:p.Ala14844= | |
| XM_017004823.1:c.26148A>C (TTN) | XP_016860312.1:p.Ala8716= | |
| XM_024453094.1:c.47643A>C (TTN) | XP_024308862.1:p.Ala15881= | |
| XM_024453095.1:c.47640A>C (TTN) | XP_024308863.1:p.Ala15880= | |
| XM_024453096.1:c.47073A>C (TTN) | XP_024308864.1:p.Ala15691= | |
| XM_024453097.1:c.44415A>C (TTN) | XP_024308865.1:p.Ala14805= | |
| XM_024453098.1:c.44334A>C (TTN) | XP_024308866.1:p.Ala14778= | |
| XM_024453099.1:c.26097A>C (TTN) | XP_024308867.1:p.Ala8699= | |
| XM_024453100.1:c.15951A>C (TTN) | XP_024308868.1:p.Ala5317= |