Linked Data
ClinVar Variation Id:
2586519
ClinVar RCV Id:
RCV003358349
MyVariant Identifiers:
chr2:g.179394998C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530271C>T , CM000664.2:g.178530271C>T | GRCh38 |
| NC_000002.11:g.179394998C>T , CM000664.1:g.179394998C>T | GRCh37 |
| NC_000002.10:g.179103244C>T | NCBI36 |
| NG_011618.3:g.305532G>A , LRG_391:g.305532G>A | |
| NG_051363.1:g.12445C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98640G>A (TTN) | ENSP00000343764.6:p.Arg32880= | |
| ENST00000342175.11:c.79725G>A (TTN) | ENSP00000340554.6:p.Arg26575= | |
| ENST00000359218.10:c.79524G>A (TTN) | ENSP00000352154.5:p.Arg26508= | |
| ENST00000342175.10:c.79725G>A (TTN) | ENSP00000340554.6:p.Arg26575= | |
| ENST00000342992.10:c.98640G>A (TTN) | ENSP00000343764.6:p.Arg32880= | |
| ENST00000359218.9:c.79524G>A (TTN) | ENSP00000352154.5:p.Arg26508= | |
| ENST00000460472.6:c.79149G>A (TTN) | ENSP00000434586.1:p.Arg26383= | |
| ENST00000589042.5:c.106344G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg35448= | |
| ENST00000591111.5:c.101421G>A (TTN) | ENSP00000465570.1:p.Arg33807= | |
| ENST00000615779.4:c.101421G>A (TTN) | ENSP00000483597.1:p.Arg33807= | |
| NM_001256850.1:c.101421G>A (TTN) | NP_001243779.1:p.Arg33807= | |
| NM_001267550.2:c.106344G>A (TTN) MANE Select | NP_001254479.2:p.Arg35448= | |
| NM_003319.4:c.79149G>A (TTN) | NP_003310.4:p.Arg26383= | |
| NM_133378.4:c.98640G>A (TTN) | NP_596869.4:p.Arg32880= | |
| NM_133432.3:c.79524G>A (TTN) | NP_597676.3:p.Arg26508= | |
| NM_133437.4:c.79725G>A (TTN) | NP_597681.4:p.Arg26575= | |
| NR_038271.1:n.446+6635C>T (TTN-AS1) | ||
| NR_038272.1:n.220-5461C>T (TTN-AS1) | ||
| XM_011511729.1:c.105441G>A (TTN) | XP_011510031.1:p.Arg35147= | |
| XM_011511730.1:c.79335G>A (TTN) | XP_011510032.1:p.Arg26445= | |
| XM_011511731.1:c.79194G>A (TTN) | XP_011510033.1:p.Arg26398= | |
| XM_017004819.1:c.105237G>A (TTN) | XP_016860308.1:p.Arg35079= | |
| XM_017004820.1:c.100635G>A (TTN) | XP_016860309.1:p.Arg33545= | |
| XM_017004821.1:c.100632G>A (TTN) | XP_016860310.1:p.Arg33544= | |
| XM_017004822.1:c.97674G>A (TTN) | XP_016860311.1:p.Arg32558= | |
| XM_017004823.1:c.79290G>A (TTN) | XP_016860312.1:p.Arg26430= | |
| XM_024453094.1:c.100785G>A (TTN) | XP_024308862.1:p.Arg33595= | |
| XM_024453095.1:c.100782G>A (TTN) | XP_024308863.1:p.Arg33594= | |
| XM_024453096.1:c.100215G>A (TTN) | XP_024308864.1:p.Arg33405= | |
| XM_024453097.1:c.97557G>A (TTN) | XP_024308865.1:p.Arg32519= | |
| XM_024453098.1:c.97476G>A (TTN) | XP_024308866.1:p.Arg32492= | |
| XM_024453099.1:c.79239G>A (TTN) | XP_024308867.1:p.Arg26413= | |
| XM_024453100.1:c.69093G>A (TTN) | XP_024308868.1:p.Arg23031= |