MyVariant.info:
GRCh37
chr2:g.179479473T>G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614746T>G , CM000664.2:g.178614746T>G | GRCh38 |
| NC_000002.11:g.179479473T>G , CM000664.1:g.179479473T>G | GRCh37 |
| NC_000002.10:g.179187718T>G | NCBI36 |
| NG_011618.3:g.221057A>C , LRG_391:g.221057A>C | |
| NG_051363.1:g.96920T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41064A>C (TTN) | ENSP00000343764.6:p.Pro13688= | |
| ENST00000342175.11:c.22149A>C (TTN) | ENSP00000340554.6:p.Pro7383= | |
| ENST00000359218.10:c.21948A>C (TTN) | ENSP00000352154.5:p.Pro7316= | |
| ENST00000342175.10:c.22149A>C (TTN) | ENSP00000340554.6:p.Pro7383= | |
| ENST00000342992.10:c.41064A>C (TTN) | ENSP00000343764.6:p.Pro13688= | |
| ENST00000359218.9:c.21948A>C (TTN) | ENSP00000352154.5:p.Pro7316= | |
| ENST00000460472.6:c.21573A>C (TTN) | ENSP00000434586.1:p.Pro7191= | |
| ENST00000589042.5:c.48768A>C (TTN) MANE Select | ENSP00000467141.1:p.Pro16256= | |
| ENST00000591111.5:c.43845A>C (TTN) | ENSP00000465570.1:p.Pro14615= | |
| ENST00000615779.4:c.43845A>C (TTN) | ENSP00000483597.1:p.Pro14615= | |
| NM_001256850.1:c.43845A>C (TTN) | NP_001243779.1:p.Pro14615= | |
| NM_001267550.2:c.48768A>C (TTN) MANE Select | NP_001254479.2:p.Pro16256= | |
| NM_003319.4:c.21573A>C (TTN) | NP_003310.4:p.Pro7191= | |
| NM_133378.4:c.41064A>C (TTN) | NP_596869.4:p.Pro13688= | |
| NM_133432.3:c.21948A>C (TTN) | NP_597676.3:p.Pro7316= | |
| NM_133437.4:c.22149A>C (TTN) | NP_597681.4:p.Pro7383= | |
| NR_038271.1:n.1494T>G (TTN-AS1) | ||
| XM_011511729.1:c.47865A>C (TTN) | XP_011510031.1:p.Pro15955= | |
| XM_011511730.1:c.21759A>C (TTN) | XP_011510032.1:p.Pro7253= | |
| XM_011511731.1:c.21618A>C (TTN) | XP_011510033.1:p.Pro7206= | |
| XM_017004819.1:c.47661A>C (TTN) | XP_016860308.1:p.Pro15887= | |
| XM_017004820.1:c.43059A>C (TTN) | XP_016860309.1:p.Pro14353= | |
| XM_017004821.1:c.43056A>C (TTN) | XP_016860310.1:p.Pro14352= | |
| XM_017004822.1:c.40098A>C (TTN) | XP_016860311.1:p.Pro13366= | |
| XM_017004823.1:c.21714A>C (TTN) | XP_016860312.1:p.Pro7238= | |
| XM_024453094.1:c.43209A>C (TTN) | XP_024308862.1:p.Pro14403= | |
| XM_024453095.1:c.43206A>C (TTN) | XP_024308863.1:p.Pro14402= | |
| XM_024453096.1:c.42639A>C (TTN) | XP_024308864.1:p.Pro14213= | |
| XM_024453097.1:c.39981A>C (TTN) | XP_024308865.1:p.Pro13327= | |
| XM_024453098.1:c.39900A>C (TTN) | XP_024308866.1:p.Pro13300= | |
| XM_024453099.1:c.21663A>C (TTN) | XP_024308867.1:p.Pro7221= | |
| XM_024453100.1:c.11517A>C (TTN) | XP_024308868.1:p.Pro3839= |