MyVariant.info:
GRCh37
chr2:g.179479380T>C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614653T>C , CM000664.2:g.178614653T>C | GRCh38 |
| NC_000002.11:g.179479380T>C , CM000664.1:g.179479380T>C | GRCh37 |
| NC_000002.10:g.179187625T>C | NCBI36 |
| NG_011618.3:g.221150A>G , LRG_391:g.221150A>G | |
| NG_051363.1:g.96827T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41157A>G (TTN) | ENSP00000343764.6:p.Glu13719= | |
| ENST00000342175.11:c.22242A>G (TTN) | ENSP00000340554.6:p.Glu7414= | |
| ENST00000359218.10:c.22041A>G (TTN) | ENSP00000352154.5:p.Glu7347= | |
| ENST00000342175.10:c.22242A>G (TTN) | ENSP00000340554.6:p.Glu7414= | |
| ENST00000342992.10:c.41157A>G (TTN) | ENSP00000343764.6:p.Glu13719= | |
| ENST00000359218.9:c.22041A>G (TTN) | ENSP00000352154.5:p.Glu7347= | |
| ENST00000460472.6:c.21666A>G (TTN) | ENSP00000434586.1:p.Glu7222= | |
| ENST00000589042.5:c.48861A>G (TTN) MANE Select | ENSP00000467141.1:p.Glu16287= | |
| ENST00000591111.5:c.43938A>G (TTN) | ENSP00000465570.1:p.Glu14646= | |
| ENST00000615779.4:c.43938A>G (TTN) | ENSP00000483597.1:p.Glu14646= | |
| NM_001256850.1:c.43938A>G (TTN) | NP_001243779.1:p.Glu14646= | |
| NM_001267550.2:c.48861A>G (TTN) MANE Select | NP_001254479.2:p.Glu16287= | |
| NM_003319.4:c.21666A>G (TTN) | NP_003310.4:p.Glu7222= | |
| NM_133378.4:c.41157A>G (TTN) | NP_596869.4:p.Glu13719= | |
| NM_133432.3:c.22041A>G (TTN) | NP_597676.3:p.Glu7347= | |
| NM_133437.4:c.22242A>G (TTN) | NP_597681.4:p.Glu7414= | |
| NR_038271.1:n.1401T>C (TTN-AS1) | ||
| XM_011511729.1:c.47958A>G (TTN) | XP_011510031.1:p.Glu15986= | |
| XM_011511730.1:c.21852A>G (TTN) | XP_011510032.1:p.Glu7284= | |
| XM_011511731.1:c.21711A>G (TTN) | XP_011510033.1:p.Glu7237= | |
| XM_017004819.1:c.47754A>G (TTN) | XP_016860308.1:p.Glu15918= | |
| XM_017004820.1:c.43152A>G (TTN) | XP_016860309.1:p.Glu14384= | |
| XM_017004821.1:c.43149A>G (TTN) | XP_016860310.1:p.Glu14383= | |
| XM_017004822.1:c.40191A>G (TTN) | XP_016860311.1:p.Glu13397= | |
| XM_017004823.1:c.21807A>G (TTN) | XP_016860312.1:p.Glu7269= | |
| XM_024453094.1:c.43302A>G (TTN) | XP_024308862.1:p.Glu14434= | |
| XM_024453095.1:c.43299A>G (TTN) | XP_024308863.1:p.Glu14433= | |
| XM_024453096.1:c.42732A>G (TTN) | XP_024308864.1:p.Glu14244= | |
| XM_024453097.1:c.40074A>G (TTN) | XP_024308865.1:p.Glu13358= | |
| XM_024453098.1:c.39993A>G (TTN) | XP_024308866.1:p.Glu13331= | |
| XM_024453099.1:c.21756A>G (TTN) | XP_024308867.1:p.Glu7252= | |
| XM_024453100.1:c.11610A>G (TTN) | XP_024308868.1:p.Glu3870= |