Linked Data
ClinVar Variation Id:
1524338
ClinVar RCV Id:
RCV002031641
dbSNP Id:
rs2154132585
MyVariant Identifiers:
chr2:g.179394968C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530241C>T , CM000664.2:g.178530241C>T | GRCh38 |
| NC_000002.11:g.179394968C>T , CM000664.1:g.179394968C>T | GRCh37 |
| NC_000002.10:g.179103214C>T | NCBI36 |
| NG_011618.3:g.305562G>A , LRG_391:g.305562G>A | |
| NG_051363.1:g.12415C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98670G>A (TTN) | ENSP00000343764.6:p.Lys32890= | |
| ENST00000342175.11:c.79755G>A (TTN) | ENSP00000340554.6:p.Lys26585= | |
| ENST00000359218.10:c.79554G>A (TTN) | ENSP00000352154.5:p.Lys26518= | |
| ENST00000342175.10:c.79755G>A (TTN) | ENSP00000340554.6:p.Lys26585= | |
| ENST00000342992.10:c.98670G>A (TTN) | ENSP00000343764.6:p.Lys32890= | |
| ENST00000359218.9:c.79554G>A (TTN) | ENSP00000352154.5:p.Lys26518= | |
| ENST00000460472.6:c.79179G>A (TTN) | ENSP00000434586.1:p.Lys26393= | |
| ENST00000589042.5:c.106374G>A (TTN) MANE Select | ENSP00000467141.1:p.Lys35458= | |
| ENST00000591111.5:c.101451G>A (TTN) | ENSP00000465570.1:p.Lys33817= | |
| ENST00000615779.4:c.101451G>A (TTN) | ENSP00000483597.1:p.Lys33817= | |
| NM_001256850.1:c.101451G>A (TTN) | NP_001243779.1:p.Lys33817= | |
| NM_001267550.2:c.106374G>A (TTN) MANE Select | NP_001254479.2:p.Lys35458= | |
| NM_003319.4:c.79179G>A (TTN) | NP_003310.4:p.Lys26393= | |
| NM_133378.4:c.98670G>A (TTN) | NP_596869.4:p.Lys32890= | |
| NM_133432.3:c.79554G>A (TTN) | NP_597676.3:p.Lys26518= | |
| NM_133437.4:c.79755G>A (TTN) | NP_597681.4:p.Lys26585= | |
| NR_038271.1:n.446+6605C>T (TTN-AS1) | ||
| NR_038272.1:n.220-5491C>T (TTN-AS1) | ||
| XM_011511729.1:c.105471G>A (TTN) | XP_011510031.1:p.Lys35157= | |
| XM_011511730.1:c.79365G>A (TTN) | XP_011510032.1:p.Lys26455= | |
| XM_011511731.1:c.79224G>A (TTN) | XP_011510033.1:p.Lys26408= | |
| XM_017004819.1:c.105267G>A (TTN) | XP_016860308.1:p.Lys35089= | |
| XM_017004820.1:c.100665G>A (TTN) | XP_016860309.1:p.Lys33555= | |
| XM_017004821.1:c.100662G>A (TTN) | XP_016860310.1:p.Lys33554= | |
| XM_017004822.1:c.97704G>A (TTN) | XP_016860311.1:p.Lys32568= | |
| XM_017004823.1:c.79320G>A (TTN) | XP_016860312.1:p.Lys26440= | |
| XM_024453094.1:c.100815G>A (TTN) | XP_024308862.1:p.Lys33605= | |
| XM_024453095.1:c.100812G>A (TTN) | XP_024308863.1:p.Lys33604= | |
| XM_024453096.1:c.100245G>A (TTN) | XP_024308864.1:p.Lys33415= | |
| XM_024453097.1:c.97587G>A (TTN) | XP_024308865.1:p.Lys32529= | |
| XM_024453098.1:c.97506G>A (TTN) | XP_024308866.1:p.Lys32502= | |
| XM_024453099.1:c.79269G>A (TTN) | XP_024308867.1:p.Lys26423= | |
| XM_024453100.1:c.69123G>A (TTN) | XP_024308868.1:p.Lys23041= |