Linked Data
ClinVar Variation Id:
1159953
ClinVar RCV Id:
RCV001503884
dbSNP Id:
rs1696036684
gnomAD v4:
2-178544349-A-G
MyVariant Identifiers:
chr2:g.179409076A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178544349A>G , CM000664.2:g.178544349A>G | GRCh38 |
| NC_000002.11:g.179409076A>G , CM000664.1:g.179409076A>G | GRCh37 |
| NC_000002.10:g.179117322A>G | NCBI36 |
| NG_011618.3:g.291454T>C , LRG_391:g.291454T>C | |
| NG_051363.1:g.26523A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88176T>C (TTN) | ENSP00000343764.6:p.His29392= | |
| ENST00000342175.11:c.69261T>C (TTN) | ENSP00000340554.6:p.His23087= | |
| ENST00000359218.10:c.69060T>C (TTN) | ENSP00000352154.5:p.His23020= | |
| ENST00000342175.10:c.69261T>C (TTN) | ENSP00000340554.6:p.His23087= | |
| ENST00000342992.10:c.88176T>C (TTN) | ENSP00000343764.6:p.His29392= | |
| ENST00000359218.9:c.69060T>C (TTN) | ENSP00000352154.5:p.His23020= | |
| ENST00000460472.6:c.68685T>C (TTN) | ENSP00000434586.1:p.His22895= | |
| ENST00000589042.5:c.95880T>C (TTN) MANE Select | ENSP00000467141.1:p.His31960= | |
| ENST00000591111.5:c.90957T>C (TTN) | ENSP00000465570.1:p.His30319= | |
| ENST00000615779.4:c.90957T>C (TTN) | ENSP00000483597.1:p.His30319= | |
| NM_001256850.1:c.90957T>C (TTN) | NP_001243779.1:p.His30319= | |
| NM_001267550.2:c.95880T>C (TTN) MANE Select | NP_001254479.2:p.His31960= | |
| NM_003319.4:c.68685T>C (TTN) | NP_003310.4:p.His22895= | |
| NM_133378.4:c.88176T>C (TTN) | NP_596869.4:p.His29392= | |
| NM_133432.3:c.69060T>C (TTN) | NP_597676.3:p.His23020= | |
| NM_133437.4:c.69261T>C (TTN) | NP_597681.4:p.His23087= | |
| NR_038271.1:n.446+20713A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+1988A>G (TTN-AS1) | ||
| XM_011511729.1:c.94977T>C (TTN) | XP_011510031.1:p.His31659= | |
| XM_011511730.1:c.68871T>C (TTN) | XP_011510032.1:p.His22957= | |
| XM_011511731.1:c.68730T>C (TTN) | XP_011510033.1:p.His22910= | |
| XM_017004819.1:c.94773T>C (TTN) | XP_016860308.1:p.His31591= | |
| XM_017004820.1:c.90171T>C (TTN) | XP_016860309.1:p.His30057= | |
| XM_017004821.1:c.90168T>C (TTN) | XP_016860310.1:p.His30056= | |
| XM_017004822.1:c.87210T>C (TTN) | XP_016860311.1:p.His29070= | |
| XM_017004823.1:c.68826T>C (TTN) | XP_016860312.1:p.His22942= | |
| XM_024453094.1:c.90321T>C (TTN) | XP_024308862.1:p.His30107= | |
| XM_024453095.1:c.90318T>C (TTN) | XP_024308863.1:p.His30106= | |
| XM_024453096.1:c.89751T>C (TTN) | XP_024308864.1:p.His29917= | |
| XM_024453097.1:c.87093T>C (TTN) | XP_024308865.1:p.His29031= | |
| XM_024453098.1:c.87012T>C (TTN) | XP_024308866.1:p.His29004= | |
| XM_024453099.1:c.68775T>C (TTN) | XP_024308867.1:p.His22925= | |
| XM_024453100.1:c.58629T>C (TTN) | XP_024308868.1:p.His19543= |