MyVariant.info:
GRCh37
chr2:g.179472216A>G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607489A>G , CM000664.2:g.178607489A>G | GRCh38 |
| NC_000002.11:g.179472216A>G , CM000664.1:g.179472216A>G | GRCh37 |
| NC_000002.10:g.179180461A>G | NCBI36 |
| NG_011618.3:g.228314T>C , LRG_391:g.228314T>C | |
| NG_051363.1:g.89663A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45495T>C (TTN) | ENSP00000343764.6:p.Asp15165= | |
| ENST00000342175.11:c.26580T>C (TTN) | ENSP00000340554.6:p.Asp8860= | |
| ENST00000359218.10:c.26379T>C (TTN) | ENSP00000352154.5:p.Asp8793= | |
| ENST00000342175.10:c.26580T>C (TTN) | ENSP00000340554.6:p.Asp8860= | |
| ENST00000342992.10:c.45495T>C (TTN) | ENSP00000343764.6:p.Asp15165= | |
| ENST00000359218.9:c.26379T>C (TTN) | ENSP00000352154.5:p.Asp8793= | |
| ENST00000460472.6:c.26004T>C (TTN) | ENSP00000434586.1:p.Asp8668= | |
| ENST00000589042.5:c.53199T>C (TTN) MANE Select | ENSP00000467141.1:p.Asp17733= | |
| ENST00000591111.5:c.48276T>C (TTN) | ENSP00000465570.1:p.Asp16092= | |
| ENST00000615779.4:c.48276T>C (TTN) | ENSP00000483597.1:p.Asp16092= | |
| NM_001256850.1:c.48276T>C (TTN) | NP_001243779.1:p.Asp16092= | |
| NM_001267550.2:c.53199T>C (TTN) MANE Select | NP_001254479.2:p.Asp17733= | |
| NM_003319.4:c.26004T>C (TTN) | NP_003310.4:p.Asp8668= | |
| NM_133378.4:c.45495T>C (TTN) | NP_596869.4:p.Asp15165= | |
| NM_133432.3:c.26379T>C (TTN) | NP_597676.3:p.Asp8793= | |
| NM_133437.4:c.26580T>C (TTN) | NP_597681.4:p.Asp8860= | |
| NR_038271.1:n.683-678A>G (TTN-AS1) | ||
| XM_011511729.1:c.52296T>C (TTN) | XP_011510031.1:p.Asp17432= | |
| XM_011511730.1:c.26190T>C (TTN) | XP_011510032.1:p.Asp8730= | |
| XM_011511731.1:c.26049T>C (TTN) | XP_011510033.1:p.Asp8683= | |
| XM_017004819.1:c.52092T>C (TTN) | XP_016860308.1:p.Asp17364= | |
| XM_017004820.1:c.47490T>C (TTN) | XP_016860309.1:p.Asp15830= | |
| XM_017004821.1:c.47487T>C (TTN) | XP_016860310.1:p.Asp15829= | |
| XM_017004822.1:c.44529T>C (TTN) | XP_016860311.1:p.Asp14843= | |
| XM_017004823.1:c.26145T>C (TTN) | XP_016860312.1:p.Asp8715= | |
| XM_024453094.1:c.47640T>C (TTN) | XP_024308862.1:p.Asp15880= | |
| XM_024453095.1:c.47637T>C (TTN) | XP_024308863.1:p.Asp15879= | |
| XM_024453096.1:c.47070T>C (TTN) | XP_024308864.1:p.Asp15690= | |
| XM_024453097.1:c.44412T>C (TTN) | XP_024308865.1:p.Asp14804= | |
| XM_024453098.1:c.44331T>C (TTN) | XP_024308866.1:p.Asp14777= | |
| XM_024453099.1:c.26094T>C (TTN) | XP_024308867.1:p.Asp8698= | |
| XM_024453100.1:c.15948T>C (TTN) | XP_024308868.1:p.Asp5316= |