MyVariant.info:
GRCh37
chr2:g.179479395T>A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614668T>A , CM000664.2:g.178614668T>A | GRCh38 |
| NC_000002.11:g.179479395T>A , CM000664.1:g.179479395T>A | GRCh37 |
| NC_000002.10:g.179187640T>A | NCBI36 |
| NG_011618.3:g.221135A>T , LRG_391:g.221135A>T | |
| NG_051363.1:g.96842T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41142A>T (TTN) | ENSP00000343764.6:p.Val13714= | |
| ENST00000342175.11:c.22227A>T (TTN) | ENSP00000340554.6:p.Val7409= | |
| ENST00000359218.10:c.22026A>T (TTN) | ENSP00000352154.5:p.Val7342= | |
| ENST00000342175.10:c.22227A>T (TTN) | ENSP00000340554.6:p.Val7409= | |
| ENST00000342992.10:c.41142A>T (TTN) | ENSP00000343764.6:p.Val13714= | |
| ENST00000359218.9:c.22026A>T (TTN) | ENSP00000352154.5:p.Val7342= | |
| ENST00000460472.6:c.21651A>T (TTN) | ENSP00000434586.1:p.Val7217= | |
| ENST00000589042.5:c.48846A>T (TTN) MANE Select | ENSP00000467141.1:p.Val16282= | |
| ENST00000591111.5:c.43923A>T (TTN) | ENSP00000465570.1:p.Val14641= | |
| ENST00000615779.4:c.43923A>T (TTN) | ENSP00000483597.1:p.Val14641= | |
| NM_001256850.1:c.43923A>T (TTN) | NP_001243779.1:p.Val14641= | |
| NM_001267550.2:c.48846A>T (TTN) MANE Select | NP_001254479.2:p.Val16282= | |
| NM_003319.4:c.21651A>T (TTN) | NP_003310.4:p.Val7217= | |
| NM_133378.4:c.41142A>T (TTN) | NP_596869.4:p.Val13714= | |
| NM_133432.3:c.22026A>T (TTN) | NP_597676.3:p.Val7342= | |
| NM_133437.4:c.22227A>T (TTN) | NP_597681.4:p.Val7409= | |
| NR_038271.1:n.1416T>A (TTN-AS1) | ||
| XM_011511729.1:c.47943A>T (TTN) | XP_011510031.1:p.Val15981= | |
| XM_011511730.1:c.21837A>T (TTN) | XP_011510032.1:p.Val7279= | |
| XM_011511731.1:c.21696A>T (TTN) | XP_011510033.1:p.Val7232= | |
| XM_017004819.1:c.47739A>T (TTN) | XP_016860308.1:p.Val15913= | |
| XM_017004820.1:c.43137A>T (TTN) | XP_016860309.1:p.Val14379= | |
| XM_017004821.1:c.43134A>T (TTN) | XP_016860310.1:p.Val14378= | |
| XM_017004822.1:c.40176A>T (TTN) | XP_016860311.1:p.Val13392= | |
| XM_017004823.1:c.21792A>T (TTN) | XP_016860312.1:p.Val7264= | |
| XM_024453094.1:c.43287A>T (TTN) | XP_024308862.1:p.Val14429= | |
| XM_024453095.1:c.43284A>T (TTN) | XP_024308863.1:p.Val14428= | |
| XM_024453096.1:c.42717A>T (TTN) | XP_024308864.1:p.Val14239= | |
| XM_024453097.1:c.40059A>T (TTN) | XP_024308865.1:p.Val13353= | |
| XM_024453098.1:c.39978A>T (TTN) | XP_024308866.1:p.Val13326= | |
| XM_024453099.1:c.21741A>T (TTN) | XP_024308867.1:p.Val7247= | |
| XM_024453100.1:c.11595A>T (TTN) | XP_024308868.1:p.Val3865= |