Linked Data
ClinVar Variation Id:
1105265
ClinVar RCV Id:
RCV001429556
dbSNP Id:
rs2154143870
MyVariant Identifiers:
chr2:g.179408601T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543874T>C , CM000664.2:g.178543874T>C | GRCh38 |
| NC_000002.11:g.179408601T>C , CM000664.1:g.179408601T>C | GRCh37 |
| NC_000002.10:g.179116847T>C | NCBI36 |
| NG_011618.3:g.291929A>G , LRG_391:g.291929A>G | |
| NG_051363.1:g.26048T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88566A>G (TTN) | ENSP00000343764.6:p.Gln29522= | |
| ENST00000342175.11:c.69651A>G (TTN) | ENSP00000340554.6:p.Gln23217= | |
| ENST00000359218.10:c.69450A>G (TTN) | ENSP00000352154.5:p.Gln23150= | |
| ENST00000342175.10:c.69651A>G (TTN) | ENSP00000340554.6:p.Gln23217= | |
| ENST00000342992.10:c.88566A>G (TTN) | ENSP00000343764.6:p.Gln29522= | |
| ENST00000359218.9:c.69450A>G (TTN) | ENSP00000352154.5:p.Gln23150= | |
| ENST00000460472.6:c.69075A>G (TTN) | ENSP00000434586.1:p.Gln23025= | |
| ENST00000589042.5:c.96270A>G (TTN) MANE Select | ENSP00000467141.1:p.Gln32090= | |
| ENST00000591111.5:c.91347A>G (TTN) | ENSP00000465570.1:p.Gln30449= | |
| ENST00000615779.4:c.91347A>G (TTN) | ENSP00000483597.1:p.Gln30449= | |
| NM_001256850.1:c.91347A>G (TTN) | NP_001243779.1:p.Gln30449= | |
| NM_001267550.2:c.96270A>G (TTN) MANE Select | NP_001254479.2:p.Gln32090= | |
| NM_003319.4:c.69075A>G (TTN) | NP_003310.4:p.Gln23025= | |
| NM_133378.4:c.88566A>G (TTN) | NP_596869.4:p.Gln29522= | |
| NM_133432.3:c.69450A>G (TTN) | NP_597676.3:p.Gln23150= | |
| NM_133437.4:c.69651A>G (TTN) | NP_597681.4:p.Gln23217= | |
| NR_038271.1:n.446+20238T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+1513T>C (TTN-AS1) | ||
| XM_011511729.1:c.95367A>G (TTN) | XP_011510031.1:p.Gln31789= | |
| XM_011511730.1:c.69261A>G (TTN) | XP_011510032.1:p.Gln23087= | |
| XM_011511731.1:c.69120A>G (TTN) | XP_011510033.1:p.Gln23040= | |
| XM_017004819.1:c.95163A>G (TTN) | XP_016860308.1:p.Gln31721= | |
| XM_017004820.1:c.90561A>G (TTN) | XP_016860309.1:p.Gln30187= | |
| XM_017004821.1:c.90558A>G (TTN) | XP_016860310.1:p.Gln30186= | |
| XM_017004822.1:c.87600A>G (TTN) | XP_016860311.1:p.Gln29200= | |
| XM_017004823.1:c.69216A>G (TTN) | XP_016860312.1:p.Gln23072= | |
| XM_024453094.1:c.90711A>G (TTN) | XP_024308862.1:p.Gln30237= | |
| XM_024453095.1:c.90708A>G (TTN) | XP_024308863.1:p.Gln30236= | |
| XM_024453096.1:c.90141A>G (TTN) | XP_024308864.1:p.Gln30047= | |
| XM_024453097.1:c.87483A>G (TTN) | XP_024308865.1:p.Gln29161= | |
| XM_024453098.1:c.87402A>G (TTN) | XP_024308866.1:p.Gln29134= | |
| XM_024453099.1:c.69165A>G (TTN) | XP_024308867.1:p.Gln23055= | |
| XM_024453100.1:c.59019A>G (TTN) | XP_024308868.1:p.Gln19673= |