MyVariant.info:
GRCh37
chr2:g.179479263A>G
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614536A>G , CM000664.2:g.178614536A>G | GRCh38 |
| NC_000002.11:g.179479263A>G , CM000664.1:g.179479263A>G | GRCh37 |
| NC_000002.10:g.179187508A>G | NCBI36 |
| NG_011618.3:g.221267T>C , LRG_391:g.221267T>C | |
| NG_051363.1:g.96710A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41274T>C (TTN) | ENSP00000343764.6:p.Thr13758= | |
| ENST00000342175.11:c.22359T>C (TTN) | ENSP00000340554.6:p.Thr7453= | |
| ENST00000359218.10:c.22158T>C (TTN) | ENSP00000352154.5:p.Thr7386= | |
| ENST00000342175.10:c.22359T>C (TTN) | ENSP00000340554.6:p.Thr7453= | |
| ENST00000342992.10:c.41274T>C (TTN) | ENSP00000343764.6:p.Thr13758= | |
| ENST00000359218.9:c.22158T>C (TTN) | ENSP00000352154.5:p.Thr7386= | |
| ENST00000460472.6:c.21783T>C (TTN) | ENSP00000434586.1:p.Thr7261= | |
| ENST00000589042.5:c.48978T>C (TTN) MANE Select | ENSP00000467141.1:p.Thr16326= | |
| ENST00000591111.5:c.44055T>C (TTN) | ENSP00000465570.1:p.Thr14685= | |
| ENST00000615779.4:c.44055T>C (TTN) | ENSP00000483597.1:p.Thr14685= | |
| NM_001256850.1:c.44055T>C (TTN) | NP_001243779.1:p.Thr14685= | |
| NM_001267550.2:c.48978T>C (TTN) MANE Select | NP_001254479.2:p.Thr16326= | |
| NM_003319.4:c.21783T>C (TTN) | NP_003310.4:p.Thr7261= | |
| NM_133378.4:c.41274T>C (TTN) | NP_596869.4:p.Thr13758= | |
| NM_133432.3:c.22158T>C (TTN) | NP_597676.3:p.Thr7386= | |
| NM_133437.4:c.22359T>C (TTN) | NP_597681.4:p.Thr7453= | |
| NR_038271.1:n.1284A>G (TTN-AS1) | ||
| XM_011511729.1:c.48075T>C (TTN) | XP_011510031.1:p.Thr16025= | |
| XM_011511730.1:c.21969T>C (TTN) | XP_011510032.1:p.Thr7323= | |
| XM_011511731.1:c.21828T>C (TTN) | XP_011510033.1:p.Thr7276= | |
| XM_017004819.1:c.47871T>C (TTN) | XP_016860308.1:p.Thr15957= | |
| XM_017004820.1:c.43269T>C (TTN) | XP_016860309.1:p.Thr14423= | |
| XM_017004821.1:c.43266T>C (TTN) | XP_016860310.1:p.Thr14422= | |
| XM_017004822.1:c.40308T>C (TTN) | XP_016860311.1:p.Thr13436= | |
| XM_017004823.1:c.21924T>C (TTN) | XP_016860312.1:p.Thr7308= | |
| XM_024453094.1:c.43419T>C (TTN) | XP_024308862.1:p.Thr14473= | |
| XM_024453095.1:c.43416T>C (TTN) | XP_024308863.1:p.Thr14472= | |
| XM_024453096.1:c.42849T>C (TTN) | XP_024308864.1:p.Thr14283= | |
| XM_024453097.1:c.40191T>C (TTN) | XP_024308865.1:p.Thr13397= | |
| XM_024453098.1:c.40110T>C (TTN) | XP_024308866.1:p.Thr13370= | |
| XM_024453099.1:c.21873T>C (TTN) | XP_024308867.1:p.Thr7291= | |
| XM_024453100.1:c.11727T>C (TTN) | XP_024308868.1:p.Thr3909= |