Linked Data
dbSNP Id:
rs1402672920
gnomAD v2:
2-179394788-A-ATG
MyVariant Identifiers:
chr2:g.179394788_179394789insTG (hg19)
chr2:g.178530061_178530062insTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530061_178530062insTG , CM000664.2:g.178530061_178530062insTG | GRCh38 |
| NC_000002.11:g.179394788_179394789insTG , CM000664.1:g.179394788_179394789insTG | GRCh37 |
| NC_000002.10:g.179103034_179103035insTG | NCBI36 |
| NG_011618.3:g.305741_305742insCA , LRG_391:g.305741_305742insCA | |
| NG_051363.1:g.12235_12236insTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98725_98726insCA (TTN) | ENSP00000343764.6:p.Leu32909SerfsTer2 | |
| ENST00000342175.11:c.79810_79811insCA (TTN) | ENSP00000340554.6:p.Leu26604SerfsTer2 | |
| ENST00000359218.10:c.79609_79610insCA (TTN) | ENSP00000352154.5:p.Leu26537SerfsTer2 | |
| ENST00000342175.10:c.79810_79811insCA (TTN) | ENSP00000340554.6:p.Leu26604SerfsTer2 | |
| ENST00000342992.10:c.98725_98726insCA (TTN) | ENSP00000343764.6:p.Leu32909SerfsTer2 | |
| ENST00000359218.9:c.79609_79610insCA (TTN) | ENSP00000352154.5:p.Leu26537SerfsTer2 | |
| ENST00000460472.6:c.79234_79235insCA (TTN) | ENSP00000434586.1:p.Leu26412SerfsTer2 | |
| ENST00000589042.5:c.106429_106430insCA (TTN) MANE Select | ENSP00000467141.1:p.Leu35477SerfsTer2 | |
| ENST00000591111.5:c.101506_101507insCA (TTN) | ENSP00000465570.1:p.Leu33836SerfsTer2 | |
| ENST00000615779.4:c.101506_101507insCA (TTN) | ENSP00000483597.1:p.Leu33836SerfsTer2 | |
| NM_001256850.1:c.101506_101507insCA (TTN) | NP_001243779.1:p.Leu33836SerfsTer2 | |
| NM_001267550.2:c.106429_106430insCA (TTN) MANE Select | NP_001254479.2:p.Leu35477SerfsTer2 | |
| NM_003319.4:c.79234_79235insCA (TTN) | NP_003310.4:p.Leu26412SerfsTer2 | |
| NM_133378.4:c.98725_98726insCA (TTN) | NP_596869.4:p.Leu32909SerfsTer2 | |
| NM_133432.3:c.79609_79610insCA (TTN) | NP_597676.3:p.Leu26537SerfsTer2 | |
| NM_133437.4:c.79810_79811insCA (TTN) | NP_597681.4:p.Leu26604SerfsTer2 | |
| NR_038271.1:n.446+6425_446+6426insTG (TTN-AS1) | ||
| NR_038272.1:n.220-5671_220-5670insTG (TTN-AS1) | ||
| XM_011511729.1:c.105526_105527insCA (TTN) | XP_011510031.1:p.Leu35176SerfsTer2 | |
| XM_011511730.1:c.79420_79421insCA (TTN) | XP_011510032.1:p.Leu26474SerfsTer2 | |
| XM_011511731.1:c.79279_79280insCA (TTN) | XP_011510033.1:p.Leu26427SerfsTer2 | |
| XM_017004819.1:c.105322_105323insCA (TTN) | XP_016860308.1:p.Leu35108SerfsTer2 | |
| XM_017004820.1:c.100720_100721insCA (TTN) | XP_016860309.1:p.Leu33574SerfsTer2 | |
| XM_017004821.1:c.100717_100718insCA (TTN) | XP_016860310.1:p.Leu33573SerfsTer2 | |
| XM_017004822.1:c.97759_97760insCA (TTN) | XP_016860311.1:p.Leu32587SerfsTer2 | |
| XM_017004823.1:c.79375_79376insCA (TTN) | XP_016860312.1:p.Leu26459SerfsTer2 | |
| XM_024453094.1:c.100870_100871insCA (TTN) | XP_024308862.1:p.Leu33624SerfsTer2 | |
| XM_024453095.1:c.100867_100868insCA (TTN) | XP_024308863.1:p.Leu33623SerfsTer2 | |
| XM_024453096.1:c.100300_100301insCA (TTN) | XP_024308864.1:p.Leu33434SerfsTer2 | |
| XM_024453097.1:c.97642_97643insCA (TTN) | XP_024308865.1:p.Leu32548SerfsTer2 | |
| XM_024453098.1:c.97561_97562insCA (TTN) | XP_024308866.1:p.Leu32521SerfsTer2 | |
| XM_024453099.1:c.79324_79325insCA (TTN) | XP_024308867.1:p.Leu26442SerfsTer2 | |
| XM_024453100.1:c.69178_69179insCA (TTN) | XP_024308868.1:p.Leu23060SerfsTer2 |