MyVariant.info:
GRCh37
chr2:g.179441085A>C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178576358A>C , CM000664.2:g.178576358A>C | GRCh38 |
| NC_000002.11:g.179441085A>C , CM000664.1:g.179441085A>C | GRCh37 |
| NC_000002.10:g.179149331A>C | NCBI36 |
| NG_011618.3:g.259445T>G , LRG_391:g.259445T>G | |
| NG_051363.1:g.58532A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62070T>G (TTN) | ENSP00000343764.6:p.Ser20690= | |
| ENST00000342175.11:c.43155T>G (TTN) | ENSP00000340554.6:p.Ser14385= | |
| ENST00000359218.10:c.42954T>G (TTN) | ENSP00000352154.5:p.Ser14318= | |
| ENST00000342175.10:c.43155T>G (TTN) | ENSP00000340554.6:p.Ser14385= | |
| ENST00000342992.10:c.62070T>G (TTN) | ENSP00000343764.6:p.Ser20690= | |
| ENST00000359218.9:c.42954T>G (TTN) | ENSP00000352154.5:p.Ser14318= | |
| ENST00000460472.6:c.42579T>G (TTN) | ENSP00000434586.1:p.Ser14193= | |
| ENST00000589042.5:c.69774T>G (TTN) MANE Select | ENSP00000467141.1:p.Ser23258= | |
| ENST00000591111.5:c.64851T>G (TTN) | ENSP00000465570.1:p.Ser21617= | |
| ENST00000615779.4:c.64851T>G (TTN) | ENSP00000483597.1:p.Ser21617= | |
| NM_001256850.1:c.64851T>G (TTN) | NP_001243779.1:p.Ser21617= | |
| NM_001267550.2:c.69774T>G (TTN) MANE Select | NP_001254479.2:p.Ser23258= | |
| NM_003319.4:c.42579T>G (TTN) | NP_003310.4:p.Ser14193= | |
| NM_133378.4:c.62070T>G (TTN) | NP_596869.4:p.Ser20690= | |
| NM_133432.3:c.42954T>G (TTN) | NP_597676.3:p.Ser14318= | |
| NM_133437.4:c.43155T>G (TTN) | NP_597681.4:p.Ser14385= | |
| NR_038271.1:n.596+4909A>C (TTN-AS1) | ||
| NR_038272.1:n.2044-6214A>C (TTN-AS1) | ||
| XM_011511729.1:c.68871T>G (TTN) | XP_011510031.1:p.Ser22957= | |
| XM_011511730.1:c.42765T>G (TTN) | XP_011510032.1:p.Ser14255= | |
| XM_011511731.1:c.42624T>G (TTN) | XP_011510033.1:p.Ser14208= | |
| XM_017004819.1:c.68667T>G (TTN) | XP_016860308.1:p.Ser22889= | |
| XM_017004820.1:c.64065T>G (TTN) | XP_016860309.1:p.Ser21355= | |
| XM_017004821.1:c.64062T>G (TTN) | XP_016860310.1:p.Ser21354= | |
| XM_017004822.1:c.61104T>G (TTN) | XP_016860311.1:p.Ser20368= | |
| XM_017004823.1:c.42720T>G (TTN) | XP_016860312.1:p.Ser14240= | |
| XM_024453094.1:c.64215T>G (TTN) | XP_024308862.1:p.Ser21405= | |
| XM_024453095.1:c.64212T>G (TTN) | XP_024308863.1:p.Ser21404= | |
| XM_024453096.1:c.63645T>G (TTN) | XP_024308864.1:p.Ser21215= | |
| XM_024453097.1:c.60987T>G (TTN) | XP_024308865.1:p.Ser20329= | |
| XM_024453098.1:c.60906T>G (TTN) | XP_024308866.1:p.Ser20302= | |
| XM_024453099.1:c.42669T>G (TTN) | XP_024308867.1:p.Ser14223= | |
| XM_024453100.1:c.32523T>G (TTN) | XP_024308868.1:p.Ser10841= |