Linked Data
ClinVar Variation Id:
651058
dbSNP Id:
rs1394131775
gnomAD v3:
2-178530499-T-TAA
gnomAD v4:
2-178530499-T-TAA
MyVariant Identifiers:
chr2:g.179395226_179395227insAA (hg19)
chr2:g.178530499_178530500insAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530500_178530501dup , CM000664.2:g.178530500_178530501dup | GRCh38 |
| NC_000002.11:g.179395227_179395228dup , CM000664.1:g.179395227_179395228dup | GRCh37 |
| NC_000002.10:g.179103473_179103474dup | NCBI36 |
| NG_011618.3:g.305302_305303dup , LRG_391:g.305302_305303dup | |
| NG_051363.1:g.12674_12675dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98410_98411dup (TTN) | ENSP00000343764.6:p.Leu32804PhefsTer? | |
| ENST00000342175.11:c.79495_79496dup (TTN) | ENSP00000340554.6:p.Leu26499PhefsTer? | |
| ENST00000359218.10:c.79294_79295dup (TTN) | ENSP00000352154.5:p.Leu26432PhefsTer? | |
| ENST00000342175.10:c.79495_79496dup (TTN) | ENSP00000340554.6:p.Leu26499PhefsTer? | |
| ENST00000342992.10:c.98410_98411dup (TTN) | ENSP00000343764.6:p.Leu32804PhefsTer? | |
| ENST00000359218.9:c.79294_79295dup (TTN) | ENSP00000352154.5:p.Leu26432PhefsTer? | |
| ENST00000460472.6:c.78919_78920dup (TTN) | ENSP00000434586.1:p.Leu26307PhefsTer? | |
| ENST00000589042.5:c.106114_106115dup (TTN) MANE Select | ENSP00000467141.1:p.Leu35372PhefsTer? | |
| ENST00000591111.5:c.101191_101192dup (TTN) | ENSP00000465570.1:p.Leu33731PhefsTer? | |
| ENST00000615779.4:c.101191_101192dup (TTN) | ENSP00000483597.1:p.Leu33731PhefsTer? | |
| NM_001256850.1:c.101191_101192dup (TTN) | NP_001243779.1:p.Leu33731PhefsTer? | |
| NM_001267550.2:c.106114_106115dup (TTN) MANE Select | NP_001254479.2:p.Leu35372PhefsTer? | |
| NM_003319.4:c.78919_78920dup (TTN) | NP_003310.4:p.Leu26307PhefsTer? | |
| NM_133378.4:c.98410_98411dup (TTN) | NP_596869.4:p.Leu32804PhefsTer? | |
| NM_133432.3:c.79294_79295dup (TTN) | NP_597676.3:p.Leu26432PhefsTer? | |
| NM_133437.4:c.79495_79496dup (TTN) | NP_597681.4:p.Leu26499PhefsTer? | |
| NR_038271.1:n.446+6864_446+6865dup (TTN-AS1) | ||
| NR_038272.1:n.220-5232_220-5231dup (TTN-AS1) | ||
| XM_011511729.1:c.105211_105212dup (TTN) | XP_011510031.1:p.Leu35071PhefsTer? | |
| XM_011511730.1:c.79105_79106dup (TTN) | XP_011510032.1:p.Leu26369PhefsTer? | |
| XM_011511731.1:c.78964_78965dup (TTN) | XP_011510033.1:p.Leu26322PhefsTer? | |
| XM_017004819.1:c.105007_105008dup (TTN) | XP_016860308.1:p.Leu35003PhefsTer? | |
| XM_017004820.1:c.100405_100406dup (TTN) | XP_016860309.1:p.Leu33469PhefsTer? | |
| XM_017004821.1:c.100402_100403dup (TTN) | XP_016860310.1:p.Leu33468PhefsTer? | |
| XM_017004822.1:c.97444_97445dup (TTN) | XP_016860311.1:p.Leu32482PhefsTer? | |
| XM_017004823.1:c.79060_79061dup (TTN) | XP_016860312.1:p.Leu26354PhefsTer? | |
| XM_024453094.1:c.100555_100556dup (TTN) | XP_024308862.1:p.Leu33519PhefsTer? | |
| XM_024453095.1:c.100552_100553dup (TTN) | XP_024308863.1:p.Leu33518PhefsTer? | |
| XM_024453096.1:c.99985_99986dup (TTN) | XP_024308864.1:p.Leu33329PhefsTer? | |
| XM_024453097.1:c.97327_97328dup (TTN) | XP_024308865.1:p.Leu32443PhefsTer? | |
| XM_024453098.1:c.97246_97247dup (TTN) | XP_024308866.1:p.Leu32416PhefsTer? | |
| XM_024453099.1:c.79009_79010dup (TTN) | XP_024308867.1:p.Leu26337PhefsTer? | |
| XM_024453100.1:c.68863_68864dup (TTN) | XP_024308868.1:p.Leu22955PhefsTer? |