MyVariant.info:
GRCh37
chr2:g.179479386T>C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614659T>C , CM000664.2:g.178614659T>C | GRCh38 |
| NC_000002.11:g.179479386T>C , CM000664.1:g.179479386T>C | GRCh37 |
| NC_000002.10:g.179187631T>C | NCBI36 |
| NG_011618.3:g.221144A>G , LRG_391:g.221144A>G | |
| NG_051363.1:g.96833T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41151A>G (TTN) | ENSP00000343764.6:p.Lys13717= | |
| ENST00000342175.11:c.22236A>G (TTN) | ENSP00000340554.6:p.Lys7412= | |
| ENST00000359218.10:c.22035A>G (TTN) | ENSP00000352154.5:p.Lys7345= | |
| ENST00000342175.10:c.22236A>G (TTN) | ENSP00000340554.6:p.Lys7412= | |
| ENST00000342992.10:c.41151A>G (TTN) | ENSP00000343764.6:p.Lys13717= | |
| ENST00000359218.9:c.22035A>G (TTN) | ENSP00000352154.5:p.Lys7345= | |
| ENST00000460472.6:c.21660A>G (TTN) | ENSP00000434586.1:p.Lys7220= | |
| ENST00000589042.5:c.48855A>G (TTN) MANE Select | ENSP00000467141.1:p.Lys16285= | |
| ENST00000591111.5:c.43932A>G (TTN) | ENSP00000465570.1:p.Lys14644= | |
| ENST00000615779.4:c.43932A>G (TTN) | ENSP00000483597.1:p.Lys14644= | |
| NM_001256850.1:c.43932A>G (TTN) | NP_001243779.1:p.Lys14644= | |
| NM_001267550.2:c.48855A>G (TTN) MANE Select | NP_001254479.2:p.Lys16285= | |
| NM_003319.4:c.21660A>G (TTN) | NP_003310.4:p.Lys7220= | |
| NM_133378.4:c.41151A>G (TTN) | NP_596869.4:p.Lys13717= | |
| NM_133432.3:c.22035A>G (TTN) | NP_597676.3:p.Lys7345= | |
| NM_133437.4:c.22236A>G (TTN) | NP_597681.4:p.Lys7412= | |
| NR_038271.1:n.1407T>C (TTN-AS1) | ||
| XM_011511729.1:c.47952A>G (TTN) | XP_011510031.1:p.Lys15984= | |
| XM_011511730.1:c.21846A>G (TTN) | XP_011510032.1:p.Lys7282= | |
| XM_011511731.1:c.21705A>G (TTN) | XP_011510033.1:p.Lys7235= | |
| XM_017004819.1:c.47748A>G (TTN) | XP_016860308.1:p.Lys15916= | |
| XM_017004820.1:c.43146A>G (TTN) | XP_016860309.1:p.Lys14382= | |
| XM_017004821.1:c.43143A>G (TTN) | XP_016860310.1:p.Lys14381= | |
| XM_017004822.1:c.40185A>G (TTN) | XP_016860311.1:p.Lys13395= | |
| XM_017004823.1:c.21801A>G (TTN) | XP_016860312.1:p.Lys7267= | |
| XM_024453094.1:c.43296A>G (TTN) | XP_024308862.1:p.Lys14432= | |
| XM_024453095.1:c.43293A>G (TTN) | XP_024308863.1:p.Lys14431= | |
| XM_024453096.1:c.42726A>G (TTN) | XP_024308864.1:p.Lys14242= | |
| XM_024453097.1:c.40068A>G (TTN) | XP_024308865.1:p.Lys13356= | |
| XM_024453098.1:c.39987A>G (TTN) | XP_024308866.1:p.Lys13329= | |
| XM_024453099.1:c.21750A>G (TTN) | XP_024308867.1:p.Lys7250= | |
| XM_024453100.1:c.11604A>G (TTN) | XP_024308868.1:p.Lys3868= |