MyVariant.info:
GRCh37
chr2:g.179479266G>A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614539G>A , CM000664.2:g.178614539G>A | GRCh38 |
| NC_000002.11:g.179479266G>A , CM000664.1:g.179479266G>A | GRCh37 |
| NC_000002.10:g.179187511G>A | NCBI36 |
| NG_011618.3:g.221264C>T , LRG_391:g.221264C>T | |
| NG_051363.1:g.96713G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41271C>T (TTN) | ENSP00000343764.6:p.Asp13757= | |
| ENST00000342175.11:c.22356C>T (TTN) | ENSP00000340554.6:p.Asp7452= | |
| ENST00000359218.10:c.22155C>T (TTN) | ENSP00000352154.5:p.Asp7385= | |
| ENST00000342175.10:c.22356C>T (TTN) | ENSP00000340554.6:p.Asp7452= | |
| ENST00000342992.10:c.41271C>T (TTN) | ENSP00000343764.6:p.Asp13757= | |
| ENST00000359218.9:c.22155C>T (TTN) | ENSP00000352154.5:p.Asp7385= | |
| ENST00000460472.6:c.21780C>T (TTN) | ENSP00000434586.1:p.Asp7260= | |
| ENST00000589042.5:c.48975C>T (TTN) MANE Select | ENSP00000467141.1:p.Asp16325= | |
| ENST00000591111.5:c.44052C>T (TTN) | ENSP00000465570.1:p.Asp14684= | |
| ENST00000615779.4:c.44052C>T (TTN) | ENSP00000483597.1:p.Asp14684= | |
| NM_001256850.1:c.44052C>T (TTN) | NP_001243779.1:p.Asp14684= | |
| NM_001267550.2:c.48975C>T (TTN) MANE Select | NP_001254479.2:p.Asp16325= | |
| NM_003319.4:c.21780C>T (TTN) | NP_003310.4:p.Asp7260= | |
| NM_133378.4:c.41271C>T (TTN) | NP_596869.4:p.Asp13757= | |
| NM_133432.3:c.22155C>T (TTN) | NP_597676.3:p.Asp7385= | |
| NM_133437.4:c.22356C>T (TTN) | NP_597681.4:p.Asp7452= | |
| NR_038271.1:n.1287G>A (TTN-AS1) | ||
| XM_011511729.1:c.48072C>T (TTN) | XP_011510031.1:p.Asp16024= | |
| XM_011511730.1:c.21966C>T (TTN) | XP_011510032.1:p.Asp7322= | |
| XM_011511731.1:c.21825C>T (TTN) | XP_011510033.1:p.Asp7275= | |
| XM_017004819.1:c.47868C>T (TTN) | XP_016860308.1:p.Asp15956= | |
| XM_017004820.1:c.43266C>T (TTN) | XP_016860309.1:p.Asp14422= | |
| XM_017004821.1:c.43263C>T (TTN) | XP_016860310.1:p.Asp14421= | |
| XM_017004822.1:c.40305C>T (TTN) | XP_016860311.1:p.Asp13435= | |
| XM_017004823.1:c.21921C>T (TTN) | XP_016860312.1:p.Asp7307= | |
| XM_024453094.1:c.43416C>T (TTN) | XP_024308862.1:p.Asp14472= | |
| XM_024453095.1:c.43413C>T (TTN) | XP_024308863.1:p.Asp14471= | |
| XM_024453096.1:c.42846C>T (TTN) | XP_024308864.1:p.Asp14282= | |
| XM_024453097.1:c.40188C>T (TTN) | XP_024308865.1:p.Asp13396= | |
| XM_024453098.1:c.40107C>T (TTN) | XP_024308866.1:p.Asp13369= | |
| XM_024453099.1:c.21870C>T (TTN) | XP_024308867.1:p.Asp7290= | |
| XM_024453100.1:c.11724C>T (TTN) | XP_024308868.1:p.Asp3908= |