Linked Data
ClinVar Variation Id:
2945077
ClinVar RCV Id:
RCV003800731
dbSNP Id:
rs1696014910
MyVariant Identifiers:
chr2:g.179409028T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178544301T>C , CM000664.2:g.178544301T>C | GRCh38 |
| NC_000002.11:g.179409028T>C , CM000664.1:g.179409028T>C | GRCh37 |
| NC_000002.10:g.179117274T>C | NCBI36 |
| NG_011618.3:g.291502A>G , LRG_391:g.291502A>G | |
| NG_051363.1:g.26475T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.88224A>G (TTN) | ENSP00000343764.6:p.Lys29408= | |
| ENST00000342175.11:c.69309A>G (TTN) | ENSP00000340554.6:p.Lys23103= | |
| ENST00000359218.10:c.69108A>G (TTN) | ENSP00000352154.5:p.Lys23036= | |
| ENST00000342175.10:c.69309A>G (TTN) | ENSP00000340554.6:p.Lys23103= | |
| ENST00000342992.10:c.88224A>G (TTN) | ENSP00000343764.6:p.Lys29408= | |
| ENST00000359218.9:c.69108A>G (TTN) | ENSP00000352154.5:p.Lys23036= | |
| ENST00000460472.6:c.68733A>G (TTN) | ENSP00000434586.1:p.Lys22911= | |
| ENST00000589042.5:c.95928A>G (TTN) MANE Select | ENSP00000467141.1:p.Lys31976= | |
| ENST00000591111.5:c.91005A>G (TTN) | ENSP00000465570.1:p.Lys30335= | |
| ENST00000615779.4:c.91005A>G (TTN) | ENSP00000483597.1:p.Lys30335= | |
| NM_001256850.1:c.91005A>G (TTN) | NP_001243779.1:p.Lys30335= | |
| NM_001267550.2:c.95928A>G (TTN) MANE Select | NP_001254479.2:p.Lys31976= | |
| NM_003319.4:c.68733A>G (TTN) | NP_003310.4:p.Lys22911= | |
| NM_133378.4:c.88224A>G (TTN) | NP_596869.4:p.Lys29408= | |
| NM_133432.3:c.69108A>G (TTN) | NP_597676.3:p.Lys23036= | |
| NM_133437.4:c.69309A>G (TTN) | NP_597681.4:p.Lys23103= | |
| NR_038271.1:n.446+20665T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+1940T>C (TTN-AS1) | ||
| XM_011511729.1:c.95025A>G (TTN) | XP_011510031.1:p.Lys31675= | |
| XM_011511730.1:c.68919A>G (TTN) | XP_011510032.1:p.Lys22973= | |
| XM_011511731.1:c.68778A>G (TTN) | XP_011510033.1:p.Lys22926= | |
| XM_017004819.1:c.94821A>G (TTN) | XP_016860308.1:p.Lys31607= | |
| XM_017004820.1:c.90219A>G (TTN) | XP_016860309.1:p.Lys30073= | |
| XM_017004821.1:c.90216A>G (TTN) | XP_016860310.1:p.Lys30072= | |
| XM_017004822.1:c.87258A>G (TTN) | XP_016860311.1:p.Lys29086= | |
| XM_017004823.1:c.68874A>G (TTN) | XP_016860312.1:p.Lys22958= | |
| XM_024453094.1:c.90369A>G (TTN) | XP_024308862.1:p.Lys30123= | |
| XM_024453095.1:c.90366A>G (TTN) | XP_024308863.1:p.Lys30122= | |
| XM_024453096.1:c.89799A>G (TTN) | XP_024308864.1:p.Lys29933= | |
| XM_024453097.1:c.87141A>G (TTN) | XP_024308865.1:p.Lys29047= | |
| XM_024453098.1:c.87060A>G (TTN) | XP_024308866.1:p.Lys29020= | |
| XM_024453099.1:c.68823A>G (TTN) | XP_024308867.1:p.Lys22941= | |
| XM_024453100.1:c.58677A>G (TTN) | XP_024308868.1:p.Lys19559= |