Linked Data
ClinVar Variation Id:
1560500
ClinVar RCV Id:
RCV002197827
dbSNP Id:
rs2154137549
MyVariant Identifiers:
chr2:g.179401289A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178536562A>G , CM000664.2:g.178536562A>G | GRCh38 |
| NC_000002.11:g.179401289A>G , CM000664.1:g.179401289A>G | GRCh37 |
| NC_000002.10:g.179109535A>G | NCBI36 |
| NG_011618.3:g.299241T>C , LRG_391:g.299241T>C | |
| NG_051363.1:g.18736A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92481T>C (TTN) | ENSP00000343764.6:p.Ala30827= | |
| ENST00000342175.11:c.73566T>C (TTN) | ENSP00000340554.6:p.Ala24522= | |
| ENST00000359218.10:c.73365T>C (TTN) | ENSP00000352154.5:p.Ala24455= | |
| ENST00000342175.10:c.73566T>C (TTN) | ENSP00000340554.6:p.Ala24522= | |
| ENST00000342992.10:c.92481T>C (TTN) | ENSP00000343764.6:p.Ala30827= | |
| ENST00000359218.9:c.73365T>C (TTN) | ENSP00000352154.5:p.Ala24455= | |
| ENST00000460472.6:c.72990T>C (TTN) | ENSP00000434586.1:p.Ala24330= | |
| ENST00000589042.5:c.100185T>C (TTN) MANE Select | ENSP00000467141.1:p.Ala33395= | |
| ENST00000591111.5:c.95262T>C (TTN) | ENSP00000465570.1:p.Ala31754= | |
| ENST00000615779.4:c.95262T>C (TTN) | ENSP00000483597.1:p.Ala31754= | |
| NM_001256850.1:c.95262T>C (TTN) | NP_001243779.1:p.Ala31754= | |
| NM_001267550.2:c.100185T>C (TTN) MANE Select | NP_001254479.2:p.Ala33395= | |
| NM_003319.4:c.72990T>C (TTN) | NP_003310.4:p.Ala24330= | |
| NM_133378.4:c.92481T>C (TTN) | NP_596869.4:p.Ala30827= | |
| NM_133432.3:c.73365T>C (TTN) | NP_597676.3:p.Ala24455= | |
| NM_133437.4:c.73566T>C (TTN) | NP_597681.4:p.Ala24522= | |
| NR_038271.1:n.446+12926A>G (TTN-AS1) | ||
| NR_038272.1:n.316+734A>G (TTN-AS1) | ||
| XM_011511729.1:c.99282T>C (TTN) | XP_011510031.1:p.Ala33094= | |
| XM_011511730.1:c.73176T>C (TTN) | XP_011510032.1:p.Ala24392= | |
| XM_011511731.1:c.73035T>C (TTN) | XP_011510033.1:p.Ala24345= | |
| XM_017004819.1:c.99078T>C (TTN) | XP_016860308.1:p.Ala33026= | |
| XM_017004820.1:c.94476T>C (TTN) | XP_016860309.1:p.Ala31492= | |
| XM_017004821.1:c.94473T>C (TTN) | XP_016860310.1:p.Ala31491= | |
| XM_017004822.1:c.91515T>C (TTN) | XP_016860311.1:p.Ala30505= | |
| XM_017004823.1:c.73131T>C (TTN) | XP_016860312.1:p.Ala24377= | |
| XM_024453094.1:c.94626T>C (TTN) | XP_024308862.1:p.Ala31542= | |
| XM_024453095.1:c.94623T>C (TTN) | XP_024308863.1:p.Ala31541= | |
| XM_024453096.1:c.94056T>C (TTN) | XP_024308864.1:p.Ala31352= | |
| XM_024453097.1:c.91398T>C (TTN) | XP_024308865.1:p.Ala30466= | |
| XM_024453098.1:c.91317T>C (TTN) | XP_024308866.1:p.Ala30439= | |
| XM_024453099.1:c.73080T>C (TTN) | XP_024308867.1:p.Ala24360= | |
| XM_024453100.1:c.62934T>C (TTN) | XP_024308868.1:p.Ala20978= |