Linked Data
ClinVar Variation Id:
2451913
ClinVar RCV Id:
RCV003187609
MyVariant Identifiers:
chr2:g.179414517T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549790T>A , CM000664.2:g.178549790T>A | GRCh38 |
| NC_000002.11:g.179414517T>A , CM000664.1:g.179414517T>A | GRCh37 |
| NC_000002.10:g.179122763T>A | NCBI36 |
| NG_011618.3:g.286013A>T , LRG_391:g.286013A>T | |
| NG_051363.1:g.31964T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84228A>T (TTN) | ENSP00000343764.6:p.Pro28076= | |
| ENST00000342175.11:c.65313A>T (TTN) | ENSP00000340554.6:p.Pro21771= | |
| ENST00000359218.10:c.65112A>T (TTN) | ENSP00000352154.5:p.Pro21704= | |
| ENST00000342175.10:c.65313A>T (TTN) | ENSP00000340554.6:p.Pro21771= | |
| ENST00000342992.10:c.84228A>T (TTN) | ENSP00000343764.6:p.Pro28076= | |
| ENST00000359218.9:c.65112A>T (TTN) | ENSP00000352154.5:p.Pro21704= | |
| ENST00000460472.6:c.64737A>T (TTN) | ENSP00000434586.1:p.Pro21579= | |
| ENST00000589042.5:c.91932A>T (TTN) MANE Select | ENSP00000467141.1:p.Pro30644= | |
| ENST00000591111.5:c.87009A>T (TTN) | ENSP00000465570.1:p.Pro29003= | |
| ENST00000615779.4:c.87009A>T (TTN) | ENSP00000483597.1:p.Pro29003= | |
| NM_001256850.1:c.87009A>T (TTN) | NP_001243779.1:p.Pro29003= | |
| NM_001267550.2:c.91932A>T (TTN) MANE Select | NP_001254479.2:p.Pro30644= | |
| NM_003319.4:c.64737A>T (TTN) | NP_003310.4:p.Pro21579= | |
| NM_133378.4:c.84228A>T (TTN) | NP_596869.4:p.Pro28076= | |
| NM_133432.3:c.65112A>T (TTN) | NP_597676.3:p.Pro21704= | |
| NM_133437.4:c.65313A>T (TTN) | NP_597681.4:p.Pro21771= | |
| NR_038271.1:n.447-21510T>A (TTN-AS1) | ||
| NR_038272.1:n.2043+7429T>A (TTN-AS1) | ||
| XM_011511729.1:c.91029A>T (TTN) | XP_011510031.1:p.Pro30343= | |
| XM_011511730.1:c.64923A>T (TTN) | XP_011510032.1:p.Pro21641= | |
| XM_011511731.1:c.64782A>T (TTN) | XP_011510033.1:p.Pro21594= | |
| XM_017004819.1:c.90825A>T (TTN) | XP_016860308.1:p.Pro30275= | |
| XM_017004820.1:c.86223A>T (TTN) | XP_016860309.1:p.Pro28741= | |
| XM_017004821.1:c.86220A>T (TTN) | XP_016860310.1:p.Pro28740= | |
| XM_017004822.1:c.83262A>T (TTN) | XP_016860311.1:p.Pro27754= | |
| XM_017004823.1:c.64878A>T (TTN) | XP_016860312.1:p.Pro21626= | |
| XM_024453094.1:c.86373A>T (TTN) | XP_024308862.1:p.Pro28791= | |
| XM_024453095.1:c.86370A>T (TTN) | XP_024308863.1:p.Pro28790= | |
| XM_024453096.1:c.85803A>T (TTN) | XP_024308864.1:p.Pro28601= | |
| XM_024453097.1:c.83145A>T (TTN) | XP_024308865.1:p.Pro27715= | |
| XM_024453098.1:c.83064A>T (TTN) | XP_024308866.1:p.Pro27688= | |
| XM_024453099.1:c.64827A>T (TTN) | XP_024308867.1:p.Pro21609= | |
| XM_024453100.1:c.54681A>T (TTN) | XP_024308868.1:p.Pro18227= |