Linked Data
ClinVar Variation Id:
2029069
ClinVar RCV Id:
RCV002894063
MyVariant Identifiers:
chr2:g.179396927T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532200T>A , CM000664.2:g.178532200T>A | GRCh38 |
| NC_000002.11:g.179396927T>A , CM000664.1:g.179396927T>A | GRCh37 |
| NC_000002.10:g.179105173T>A | NCBI36 |
| NG_011618.3:g.303603A>T , LRG_391:g.303603A>T | |
| NG_051363.1:g.14374T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96711A>T (TTN) | ENSP00000343764.6:p.Arg32237= | |
| ENST00000342175.11:c.77796A>T (TTN) | ENSP00000340554.6:p.Arg25932= | |
| ENST00000359218.10:c.77595A>T (TTN) | ENSP00000352154.5:p.Arg25865= | |
| ENST00000342175.10:c.77796A>T (TTN) | ENSP00000340554.6:p.Arg25932= | |
| ENST00000342992.10:c.96711A>T (TTN) | ENSP00000343764.6:p.Arg32237= | |
| ENST00000359218.9:c.77595A>T (TTN) | ENSP00000352154.5:p.Arg25865= | |
| ENST00000460472.6:c.77220A>T (TTN) | ENSP00000434586.1:p.Arg25740= | |
| ENST00000589042.5:c.104415A>T (TTN) MANE Select | ENSP00000467141.1:p.Arg34805= | |
| ENST00000591111.5:c.99492A>T (TTN) | ENSP00000465570.1:p.Arg33164= | |
| ENST00000615779.4:c.99492A>T (TTN) | ENSP00000483597.1:p.Arg33164= | |
| NM_001256850.1:c.99492A>T (TTN) | NP_001243779.1:p.Arg33164= | |
| NM_001267550.2:c.104415A>T (TTN) MANE Select | NP_001254479.2:p.Arg34805= | |
| NM_003319.4:c.77220A>T (TTN) | NP_003310.4:p.Arg25740= | |
| NM_133378.4:c.96711A>T (TTN) | NP_596869.4:p.Arg32237= | |
| NM_133432.3:c.77595A>T (TTN) | NP_597676.3:p.Arg25865= | |
| NM_133437.4:c.77796A>T (TTN) | NP_597681.4:p.Arg25932= | |
| NR_038271.1:n.446+8564T>A (TTN-AS1) | ||
| NR_038272.1:n.220-3532T>A (TTN-AS1) | ||
| XM_011511729.1:c.103512A>T (TTN) | XP_011510031.1:p.Arg34504= | |
| XM_011511730.1:c.77406A>T (TTN) | XP_011510032.1:p.Arg25802= | |
| XM_011511731.1:c.77265A>T (TTN) | XP_011510033.1:p.Arg25755= | |
| XM_017004819.1:c.103308A>T (TTN) | XP_016860308.1:p.Arg34436= | |
| XM_017004820.1:c.98706A>T (TTN) | XP_016860309.1:p.Arg32902= | |
| XM_017004821.1:c.98703A>T (TTN) | XP_016860310.1:p.Arg32901= | |
| XM_017004822.1:c.95745A>T (TTN) | XP_016860311.1:p.Arg31915= | |
| XM_017004823.1:c.77361A>T (TTN) | XP_016860312.1:p.Arg25787= | |
| XM_024453094.1:c.98856A>T (TTN) | XP_024308862.1:p.Arg32952= | |
| XM_024453095.1:c.98853A>T (TTN) | XP_024308863.1:p.Arg32951= | |
| XM_024453096.1:c.98286A>T (TTN) | XP_024308864.1:p.Arg32762= | |
| XM_024453097.1:c.95628A>T (TTN) | XP_024308865.1:p.Arg31876= | |
| XM_024453098.1:c.95547A>T (TTN) | XP_024308866.1:p.Arg31849= | |
| XM_024453099.1:c.77310A>T (TTN) | XP_024308867.1:p.Arg25770= | |
| XM_024453100.1:c.67164A>T (TTN) | XP_024308868.1:p.Arg22388= |