Linked Data
ClinVar Variation Id:
3223286
ClinVar RCV Id:
RCV004508641
gnomAD v4:
2-178569878-G-C
MyVariant Identifiers:
chr2:g.179434605G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569878G>C , CM000664.2:g.178569878G>C | GRCh38 |
| NC_000002.11:g.179434605G>C , CM000664.1:g.179434605G>C | GRCh37 |
| NC_000002.10:g.179142851G>C | NCBI36 |
| NG_011618.3:g.265925C>G , LRG_391:g.265925C>G | |
| NG_051363.1:g.52052G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.68550C>G (TTN) | ENSP00000343764.6:p.Thr22850= | |
| ENST00000342175.11:c.49635C>G (TTN) | ENSP00000340554.6:p.Thr16545= | |
| ENST00000359218.10:c.49434C>G (TTN) | ENSP00000352154.5:p.Thr16478= | |
| ENST00000342175.10:c.49635C>G (TTN) | ENSP00000340554.6:p.Thr16545= | |
| ENST00000342992.10:c.68550C>G (TTN) | ENSP00000343764.6:p.Thr22850= | |
| ENST00000359218.9:c.49434C>G (TTN) | ENSP00000352154.5:p.Thr16478= | |
| ENST00000460472.6:c.49059C>G (TTN) | ENSP00000434586.1:p.Thr16353= | |
| ENST00000589042.5:c.76254C>G (TTN) MANE Select | ENSP00000467141.1:p.Thr25418= | |
| ENST00000591111.5:c.71331C>G (TTN) | ENSP00000465570.1:p.Thr23777= | |
| ENST00000615779.4:c.71331C>G (TTN) | ENSP00000483597.1:p.Thr23777= | |
| NM_001256850.1:c.71331C>G (TTN) | NP_001243779.1:p.Thr23777= | |
| NM_001267550.2:c.76254C>G (TTN) MANE Select | NP_001254479.2:p.Thr25418= | |
| NM_003319.4:c.49059C>G (TTN) | NP_003310.4:p.Thr16353= | |
| NM_133378.4:c.68550C>G (TTN) | NP_596869.4:p.Thr22850= | |
| NM_133432.3:c.49434C>G (TTN) | NP_597676.3:p.Thr16478= | |
| NM_133437.4:c.49635C>G (TTN) | NP_597681.4:p.Thr16545= | |
| NR_038271.1:n.447-1422G>C (TTN-AS1) | ||
| NR_038272.1:n.2044-12694G>C (TTN-AS1) | ||
| XM_011511729.1:c.75351C>G (TTN) | XP_011510031.1:p.Thr25117= | |
| XM_011511730.1:c.49245C>G (TTN) | XP_011510032.1:p.Thr16415= | |
| XM_011511731.1:c.49104C>G (TTN) | XP_011510033.1:p.Thr16368= | |
| XM_017004819.1:c.75147C>G (TTN) | XP_016860308.1:p.Thr25049= | |
| XM_017004820.1:c.70545C>G (TTN) | XP_016860309.1:p.Thr23515= | |
| XM_017004821.1:c.70542C>G (TTN) | XP_016860310.1:p.Thr23514= | |
| XM_017004822.1:c.67584C>G (TTN) | XP_016860311.1:p.Thr22528= | |
| XM_017004823.1:c.49200C>G (TTN) | XP_016860312.1:p.Thr16400= | |
| XM_024453094.1:c.70695C>G (TTN) | XP_024308862.1:p.Thr23565= | |
| XM_024453095.1:c.70692C>G (TTN) | XP_024308863.1:p.Thr23564= | |
| XM_024453096.1:c.70125C>G (TTN) | XP_024308864.1:p.Thr23375= | |
| XM_024453097.1:c.67467C>G (TTN) | XP_024308865.1:p.Thr22489= | |
| XM_024453098.1:c.67386C>G (TTN) | XP_024308866.1:p.Thr22462= | |
| XM_024453099.1:c.49149C>G (TTN) | XP_024308867.1:p.Thr16383= | |
| XM_024453100.1:c.39003C>G (TTN) | XP_024308868.1:p.Thr13001= |