Linked Data
ClinVar Variation Id:
192152
ClinVar RCV Id:
RCV000172632
RCV000176834
RCV000769938
RCV001086126
RCV001840213
RCV002336415
RCV001293185
RCV001840210
RCV001840211
RCV001840212
RCV004539590
dbSNP Id:
rs150682764
ExAC:
2:179431247 T / C
gnomAD v2:
2-179431247-T-C
gnomAD v3:
2-178566520-T-C
gnomAD v4:
2-178566520-T-C
MyVariant Identifiers:
chr2:g.179431247T>C (hg19)
chr2:g.179431247_179431248delinsCA (hg19)
chr2:g.178566520T>C (hg38)
chr2:g.178566520_178566521delinsCA (hg38)
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178566520T>C , CM000664.2:g.178566520T>C | GRCh38 |
| NC_000002.11:g.179431247T>C , CM000664.1:g.179431247T>C | GRCh37 |
| NC_000002.10:g.179139493T>C | NCBI36 |
| NG_011618.3:g.269283A>G , LRG_391:g.269283A>G | |
| NG_051363.1:g.48694T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.71908A>G (TTN) | ENSP00000343764.6:p.Thr23970Ala | |
| ENST00000342175.11:c.52993A>G (TTN) | ENSP00000340554.6:p.Thr17665Ala | |
| ENST00000359218.10:c.52792A>G (TTN) | ENSP00000352154.5:p.Thr17598Ala | |
| ENST00000342175.10:c.52993A>G (TTN) | ENSP00000340554.6:p.Thr17665Ala | |
| ENST00000342992.10:c.71908A>G (TTN) | ENSP00000343764.6:p.Thr23970Ala | |
| ENST00000359218.9:c.52792A>G (TTN) | ENSP00000352154.5:p.Thr17598Ala | |
| ENST00000460472.6:c.52417A>G (TTN) | ENSP00000434586.1:p.Thr17473Ala | |
| ENST00000589042.5:c.79612A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr26538Ala | |
| ENST00000591111.5:c.74689A>G (TTN) | ENSP00000465570.1:p.Thr24897Ala | |
| ENST00000615779.4:c.74689A>G (TTN) | ENSP00000483597.1:p.Thr24897Ala | |
| NM_001256850.1:c.74689A>G (TTN) | NP_001243779.1:p.Thr24897Ala | |
| NM_001267550.2:c.79612A>G (TTN) MANE Select | NP_001254479.2:p.Thr26538Ala | |
| NM_003319.4:c.52417A>G (TTN) | NP_003310.4:p.Thr17473Ala | |
| NM_133378.4:c.71908A>G (TTN) | NP_596869.4:p.Thr23970Ala | |
| NM_133432.3:c.52792A>G (TTN) | NP_597676.3:p.Thr17598Ala | |
| NM_133437.4:c.52993A>G (TTN) | NP_597681.4:p.Thr17665Ala | |
| NR_038271.1:n.447-4780T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-16052T>C (TTN-AS1) | ||
| XM_011511729.1:c.78709A>G (TTN) | XP_011510031.1:p.Thr26237Ala | |
| XM_011511730.1:c.52603A>G (TTN) | XP_011510032.1:p.Thr17535Ala | |
| XM_011511731.1:c.52462A>G (TTN) | XP_011510033.1:p.Thr17488Ala | |
| XM_017004819.1:c.78505A>G (TTN) | XP_016860308.1:p.Thr26169Ala | |
| XM_017004820.1:c.73903A>G (TTN) | XP_016860309.1:p.Thr24635Ala | |
| XM_017004821.1:c.73900A>G (TTN) | XP_016860310.1:p.Thr24634Ala | |
| XM_017004822.1:c.70942A>G (TTN) | XP_016860311.1:p.Thr23648Ala | |
| XM_017004823.1:c.52558A>G (TTN) | XP_016860312.1:p.Thr17520Ala | |
| XM_024453094.1:c.74053A>G (TTN) | XP_024308862.1:p.Thr24685Ala | |
| XM_024453095.1:c.74050A>G (TTN) | XP_024308863.1:p.Thr24684Ala | |
| XM_024453096.1:c.73483A>G (TTN) | XP_024308864.1:p.Thr24495Ala | |
| XM_024453097.1:c.70825A>G (TTN) | XP_024308865.1:p.Thr23609Ala | |
| XM_024453098.1:c.70744A>G (TTN) | XP_024308866.1:p.Thr23582Ala | |
| XM_024453099.1:c.52507A>G (TTN) | XP_024308867.1:p.Thr17503Ala | |
| XM_024453100.1:c.42361A>G (TTN) | XP_024308868.1:p.Thr14121Ala |