MyVariant.info:
GRCh37
chr2:g.179451335T>G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586608T>G , CM000664.2:g.178586608T>G | GRCh38 |
| NC_000002.11:g.179451335T>G , CM000664.1:g.179451335T>G | GRCh37 |
| NC_000002.10:g.179159581T>G | NCBI36 |
| NG_011618.3:g.249195A>C , LRG_391:g.249195A>C | |
| NG_051363.1:g.68782T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56589A>C (TTN) | ENSP00000343764.6:p.Leu18863= | |
| ENST00000342175.11:c.37674A>C (TTN) | ENSP00000340554.6:p.Leu12558= | |
| ENST00000359218.10:c.37473A>C (TTN) | ENSP00000352154.5:p.Leu12491= | |
| ENST00000342175.10:c.37674A>C (TTN) | ENSP00000340554.6:p.Leu12558= | |
| ENST00000342992.10:c.56589A>C (TTN) | ENSP00000343764.6:p.Leu18863= | |
| ENST00000359218.9:c.37473A>C (TTN) | ENSP00000352154.5:p.Leu12491= | |
| ENST00000460472.6:c.37098A>C (TTN) | ENSP00000434586.1:p.Leu12366= | |
| ENST00000589042.5:c.64293A>C (TTN) MANE Select | ENSP00000467141.1:p.Leu21431= | |
| ENST00000591111.5:c.59370A>C (TTN) | ENSP00000465570.1:p.Leu19790= | |
| ENST00000615779.4:c.59370A>C (TTN) | ENSP00000483597.1:p.Leu19790= | |
| NM_001256850.1:c.59370A>C (TTN) | NP_001243779.1:p.Leu19790= | |
| NM_001267550.2:c.64293A>C (TTN) MANE Select | NP_001254479.2:p.Leu21431= | |
| NM_003319.4:c.37098A>C (TTN) | NP_003310.4:p.Leu12366= | |
| NM_133378.4:c.56589A>C (TTN) | NP_596869.4:p.Leu18863= | |
| NM_133432.3:c.37473A>C (TTN) | NP_597676.3:p.Leu12491= | |
| NM_133437.4:c.37674A>C (TTN) | NP_597681.4:p.Leu12558= | |
| NR_038271.1:n.597-10988T>G (TTN-AS1) | ||
| NR_038272.1:n.3188+1615T>G (TTN-AS1) | ||
| XM_011511729.1:c.63390A>C (TTN) | XP_011510031.1:p.Leu21130= | |
| XM_011511730.1:c.37284A>C (TTN) | XP_011510032.1:p.Leu12428= | |
| XM_011511731.1:c.37143A>C (TTN) | XP_011510033.1:p.Leu12381= | |
| XM_017004819.1:c.63186A>C (TTN) | XP_016860308.1:p.Leu21062= | |
| XM_017004820.1:c.58584A>C (TTN) | XP_016860309.1:p.Leu19528= | |
| XM_017004821.1:c.58581A>C (TTN) | XP_016860310.1:p.Leu19527= | |
| XM_017004822.1:c.55623A>C (TTN) | XP_016860311.1:p.Leu18541= | |
| XM_017004823.1:c.37239A>C (TTN) | XP_016860312.1:p.Leu12413= | |
| XM_024453094.1:c.58734A>C (TTN) | XP_024308862.1:p.Leu19578= | |
| XM_024453095.1:c.58731A>C (TTN) | XP_024308863.1:p.Leu19577= | |
| XM_024453096.1:c.58164A>C (TTN) | XP_024308864.1:p.Leu19388= | |
| XM_024453097.1:c.55506A>C (TTN) | XP_024308865.1:p.Leu18502= | |
| XM_024453098.1:c.55425A>C (TTN) | XP_024308866.1:p.Leu18475= | |
| XM_024453099.1:c.37188A>C (TTN) | XP_024308867.1:p.Leu12396= | |
| XM_024453100.1:c.27042A>C (TTN) | XP_024308868.1:p.Leu9014= |