MyVariant.info:
GRCh37
chr2:g.179479389T>G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614662T>G , CM000664.2:g.178614662T>G | GRCh38 |
| NC_000002.11:g.179479389T>G , CM000664.1:g.179479389T>G | GRCh37 |
| NC_000002.10:g.179187634T>G | NCBI36 |
| NG_011618.3:g.221141A>C , LRG_391:g.221141A>C | |
| NG_051363.1:g.96836T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41148A>C (TTN) | ENSP00000343764.6:p.Gly13716= | |
| ENST00000342175.11:c.22233A>C (TTN) | ENSP00000340554.6:p.Gly7411= | |
| ENST00000359218.10:c.22032A>C (TTN) | ENSP00000352154.5:p.Gly7344= | |
| ENST00000342175.10:c.22233A>C (TTN) | ENSP00000340554.6:p.Gly7411= | |
| ENST00000342992.10:c.41148A>C (TTN) | ENSP00000343764.6:p.Gly13716= | |
| ENST00000359218.9:c.22032A>C (TTN) | ENSP00000352154.5:p.Gly7344= | |
| ENST00000460472.6:c.21657A>C (TTN) | ENSP00000434586.1:p.Gly7219= | |
| ENST00000589042.5:c.48852A>C (TTN) MANE Select | ENSP00000467141.1:p.Gly16284= | |
| ENST00000591111.5:c.43929A>C (TTN) | ENSP00000465570.1:p.Gly14643= | |
| ENST00000615779.4:c.43929A>C (TTN) | ENSP00000483597.1:p.Gly14643= | |
| NM_001256850.1:c.43929A>C (TTN) | NP_001243779.1:p.Gly14643= | |
| NM_001267550.2:c.48852A>C (TTN) MANE Select | NP_001254479.2:p.Gly16284= | |
| NM_003319.4:c.21657A>C (TTN) | NP_003310.4:p.Gly7219= | |
| NM_133378.4:c.41148A>C (TTN) | NP_596869.4:p.Gly13716= | |
| NM_133432.3:c.22032A>C (TTN) | NP_597676.3:p.Gly7344= | |
| NM_133437.4:c.22233A>C (TTN) | NP_597681.4:p.Gly7411= | |
| NR_038271.1:n.1410T>G (TTN-AS1) | ||
| XM_011511729.1:c.47949A>C (TTN) | XP_011510031.1:p.Gly15983= | |
| XM_011511730.1:c.21843A>C (TTN) | XP_011510032.1:p.Gly7281= | |
| XM_011511731.1:c.21702A>C (TTN) | XP_011510033.1:p.Gly7234= | |
| XM_017004819.1:c.47745A>C (TTN) | XP_016860308.1:p.Gly15915= | |
| XM_017004820.1:c.43143A>C (TTN) | XP_016860309.1:p.Gly14381= | |
| XM_017004821.1:c.43140A>C (TTN) | XP_016860310.1:p.Gly14380= | |
| XM_017004822.1:c.40182A>C (TTN) | XP_016860311.1:p.Gly13394= | |
| XM_017004823.1:c.21798A>C (TTN) | XP_016860312.1:p.Gly7266= | |
| XM_024453094.1:c.43293A>C (TTN) | XP_024308862.1:p.Gly14431= | |
| XM_024453095.1:c.43290A>C (TTN) | XP_024308863.1:p.Gly14430= | |
| XM_024453096.1:c.42723A>C (TTN) | XP_024308864.1:p.Gly14241= | |
| XM_024453097.1:c.40065A>C (TTN) | XP_024308865.1:p.Gly13355= | |
| XM_024453098.1:c.39984A>C (TTN) | XP_024308866.1:p.Gly13328= | |
| XM_024453099.1:c.21747A>C (TTN) | XP_024308867.1:p.Gly7249= | |
| XM_024453100.1:c.11601A>C (TTN) | XP_024308868.1:p.Gly3867= |