MyVariant.info:
GRCh37
chr2:g.179440320A>G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575593A>G , CM000664.2:g.178575593A>G | GRCh38 |
| NC_000002.11:g.179440320A>G , CM000664.1:g.179440320A>G | GRCh37 |
| NC_000002.10:g.179148566A>G | NCBI36 |
| NG_011618.3:g.260210T>C , LRG_391:g.260210T>C | |
| NG_051363.1:g.57767A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62835T>C (TTN) | ENSP00000343764.6:p.Asn20945= | |
| ENST00000342175.11:c.43920T>C (TTN) | ENSP00000340554.6:p.Asn14640= | |
| ENST00000359218.10:c.43719T>C (TTN) | ENSP00000352154.5:p.Asn14573= | |
| ENST00000342175.10:c.43920T>C (TTN) | ENSP00000340554.6:p.Asn14640= | |
| ENST00000342992.10:c.62835T>C (TTN) | ENSP00000343764.6:p.Asn20945= | |
| ENST00000359218.9:c.43719T>C (TTN) | ENSP00000352154.5:p.Asn14573= | |
| ENST00000460472.6:c.43344T>C (TTN) | ENSP00000434586.1:p.Asn14448= | |
| ENST00000589042.5:c.70539T>C (TTN) MANE Select | ENSP00000467141.1:p.Asn23513= | |
| ENST00000591111.5:c.65616T>C (TTN) | ENSP00000465570.1:p.Asn21872= | |
| ENST00000615779.4:c.65616T>C (TTN) | ENSP00000483597.1:p.Asn21872= | |
| NM_001256850.1:c.65616T>C (TTN) | NP_001243779.1:p.Asn21872= | |
| NM_001267550.2:c.70539T>C (TTN) MANE Select | NP_001254479.2:p.Asn23513= | |
| NM_003319.4:c.43344T>C (TTN) | NP_003310.4:p.Asn14448= | |
| NM_133378.4:c.62835T>C (TTN) | NP_596869.4:p.Asn20945= | |
| NM_133432.3:c.43719T>C (TTN) | NP_597676.3:p.Asn14573= | |
| NM_133437.4:c.43920T>C (TTN) | NP_597681.4:p.Asn14640= | |
| NR_038271.1:n.596+4144A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-6979A>G (TTN-AS1) | ||
| XM_011511729.1:c.69636T>C (TTN) | XP_011510031.1:p.Asn23212= | |
| XM_011511730.1:c.43530T>C (TTN) | XP_011510032.1:p.Asn14510= | |
| XM_011511731.1:c.43389T>C (TTN) | XP_011510033.1:p.Asn14463= | |
| XM_017004819.1:c.69432T>C (TTN) | XP_016860308.1:p.Asn23144= | |
| XM_017004820.1:c.64830T>C (TTN) | XP_016860309.1:p.Asn21610= | |
| XM_017004821.1:c.64827T>C (TTN) | XP_016860310.1:p.Asn21609= | |
| XM_017004822.1:c.61869T>C (TTN) | XP_016860311.1:p.Asn20623= | |
| XM_017004823.1:c.43485T>C (TTN) | XP_016860312.1:p.Asn14495= | |
| XM_024453094.1:c.64980T>C (TTN) | XP_024308862.1:p.Asn21660= | |
| XM_024453095.1:c.64977T>C (TTN) | XP_024308863.1:p.Asn21659= | |
| XM_024453096.1:c.64410T>C (TTN) | XP_024308864.1:p.Asn21470= | |
| XM_024453097.1:c.61752T>C (TTN) | XP_024308865.1:p.Asn20584= | |
| XM_024453098.1:c.61671T>C (TTN) | XP_024308866.1:p.Asn20557= | |
| XM_024453099.1:c.43434T>C (TTN) | XP_024308867.1:p.Asn14478= | |
| XM_024453100.1:c.33288T>C (TTN) | XP_024308868.1:p.Asn11096= |