MyVariant.info:
GRCh37
chr2:g.179472219C>T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607492C>T , CM000664.2:g.178607492C>T | GRCh38 |
| NC_000002.11:g.179472219C>T , CM000664.1:g.179472219C>T | GRCh37 |
| NC_000002.10:g.179180464C>T | NCBI36 |
| NG_011618.3:g.228311G>A , LRG_391:g.228311G>A | |
| NG_051363.1:g.89666C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45492G>A (TTN) | ENSP00000343764.6:p.Lys15164= | |
| ENST00000342175.11:c.26577G>A (TTN) | ENSP00000340554.6:p.Lys8859= | |
| ENST00000359218.10:c.26376G>A (TTN) | ENSP00000352154.5:p.Lys8792= | |
| ENST00000342175.10:c.26577G>A (TTN) | ENSP00000340554.6:p.Lys8859= | |
| ENST00000342992.10:c.45492G>A (TTN) | ENSP00000343764.6:p.Lys15164= | |
| ENST00000359218.9:c.26376G>A (TTN) | ENSP00000352154.5:p.Lys8792= | |
| ENST00000460472.6:c.26001G>A (TTN) | ENSP00000434586.1:p.Lys8667= | |
| ENST00000589042.5:c.53196G>A (TTN) MANE Select | ENSP00000467141.1:p.Lys17732= | |
| ENST00000591111.5:c.48273G>A (TTN) | ENSP00000465570.1:p.Lys16091= | |
| ENST00000615779.4:c.48273G>A (TTN) | ENSP00000483597.1:p.Lys16091= | |
| NM_001256850.1:c.48273G>A (TTN) | NP_001243779.1:p.Lys16091= | |
| NM_001267550.2:c.53196G>A (TTN) MANE Select | NP_001254479.2:p.Lys17732= | |
| NM_003319.4:c.26001G>A (TTN) | NP_003310.4:p.Lys8667= | |
| NM_133378.4:c.45492G>A (TTN) | NP_596869.4:p.Lys15164= | |
| NM_133432.3:c.26376G>A (TTN) | NP_597676.3:p.Lys8792= | |
| NM_133437.4:c.26577G>A (TTN) | NP_597681.4:p.Lys8859= | |
| NR_038271.1:n.683-675C>T (TTN-AS1) | ||
| XM_011511729.1:c.52293G>A (TTN) | XP_011510031.1:p.Lys17431= | |
| XM_011511730.1:c.26187G>A (TTN) | XP_011510032.1:p.Lys8729= | |
| XM_011511731.1:c.26046G>A (TTN) | XP_011510033.1:p.Lys8682= | |
| XM_017004819.1:c.52089G>A (TTN) | XP_016860308.1:p.Lys17363= | |
| XM_017004820.1:c.47487G>A (TTN) | XP_016860309.1:p.Lys15829= | |
| XM_017004821.1:c.47484G>A (TTN) | XP_016860310.1:p.Lys15828= | |
| XM_017004822.1:c.44526G>A (TTN) | XP_016860311.1:p.Lys14842= | |
| XM_017004823.1:c.26142G>A (TTN) | XP_016860312.1:p.Lys8714= | |
| XM_024453094.1:c.47637G>A (TTN) | XP_024308862.1:p.Lys15879= | |
| XM_024453095.1:c.47634G>A (TTN) | XP_024308863.1:p.Lys15878= | |
| XM_024453096.1:c.47067G>A (TTN) | XP_024308864.1:p.Lys15689= | |
| XM_024453097.1:c.44409G>A (TTN) | XP_024308865.1:p.Lys14803= | |
| XM_024453098.1:c.44328G>A (TTN) | XP_024308866.1:p.Lys14776= | |
| XM_024453099.1:c.26091G>A (TTN) | XP_024308867.1:p.Lys8697= | |
| XM_024453100.1:c.15945G>A (TTN) | XP_024308868.1:p.Lys5315= |