MyVariant.info:
GRCh37
chr2:g.179479260G>A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614533G>A , CM000664.2:g.178614533G>A | GRCh38 |
| NC_000002.11:g.179479260G>A , CM000664.1:g.179479260G>A | GRCh37 |
| NC_000002.10:g.179187505G>A | NCBI36 |
| NG_011618.3:g.221270C>T , LRG_391:g.221270C>T | |
| NG_051363.1:g.96707G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41277C>T (TTN) | ENSP00000343764.6:p.Gly13759= | |
| ENST00000342175.11:c.22362C>T (TTN) | ENSP00000340554.6:p.Gly7454= | |
| ENST00000359218.10:c.22161C>T (TTN) | ENSP00000352154.5:p.Gly7387= | |
| ENST00000342175.10:c.22362C>T (TTN) | ENSP00000340554.6:p.Gly7454= | |
| ENST00000342992.10:c.41277C>T (TTN) | ENSP00000343764.6:p.Gly13759= | |
| ENST00000359218.9:c.22161C>T (TTN) | ENSP00000352154.5:p.Gly7387= | |
| ENST00000460472.6:c.21786C>T (TTN) | ENSP00000434586.1:p.Gly7262= | |
| ENST00000589042.5:c.48981C>T (TTN) MANE Select | ENSP00000467141.1:p.Gly16327= | |
| ENST00000591111.5:c.44058C>T (TTN) | ENSP00000465570.1:p.Gly14686= | |
| ENST00000615779.4:c.44058C>T (TTN) | ENSP00000483597.1:p.Gly14686= | |
| NM_001256850.1:c.44058C>T (TTN) | NP_001243779.1:p.Gly14686= | |
| NM_001267550.2:c.48981C>T (TTN) MANE Select | NP_001254479.2:p.Gly16327= | |
| NM_003319.4:c.21786C>T (TTN) | NP_003310.4:p.Gly7262= | |
| NM_133378.4:c.41277C>T (TTN) | NP_596869.4:p.Gly13759= | |
| NM_133432.3:c.22161C>T (TTN) | NP_597676.3:p.Gly7387= | |
| NM_133437.4:c.22362C>T (TTN) | NP_597681.4:p.Gly7454= | |
| NR_038271.1:n.1281G>A (TTN-AS1) | ||
| XM_011511729.1:c.48078C>T (TTN) | XP_011510031.1:p.Gly16026= | |
| XM_011511730.1:c.21972C>T (TTN) | XP_011510032.1:p.Gly7324= | |
| XM_011511731.1:c.21831C>T (TTN) | XP_011510033.1:p.Gly7277= | |
| XM_017004819.1:c.47874C>T (TTN) | XP_016860308.1:p.Gly15958= | |
| XM_017004820.1:c.43272C>T (TTN) | XP_016860309.1:p.Gly14424= | |
| XM_017004821.1:c.43269C>T (TTN) | XP_016860310.1:p.Gly14423= | |
| XM_017004822.1:c.40311C>T (TTN) | XP_016860311.1:p.Gly13437= | |
| XM_017004823.1:c.21927C>T (TTN) | XP_016860312.1:p.Gly7309= | |
| XM_024453094.1:c.43422C>T (TTN) | XP_024308862.1:p.Gly14474= | |
| XM_024453095.1:c.43419C>T (TTN) | XP_024308863.1:p.Gly14473= | |
| XM_024453096.1:c.42852C>T (TTN) | XP_024308864.1:p.Gly14284= | |
| XM_024453097.1:c.40194C>T (TTN) | XP_024308865.1:p.Gly13398= | |
| XM_024453098.1:c.40113C>T (TTN) | XP_024308866.1:p.Gly13371= | |
| XM_024453099.1:c.21876C>T (TTN) | XP_024308867.1:p.Gly7292= | |
| XM_024453100.1:c.11730C>T (TTN) | XP_024308868.1:p.Gly3910= |