Linked Data
dbSNP Id:
rs2050112979
gnomAD v3:
2-178591116-A-G
gnomAD v4:
2-178591116-A-G
MyVariant Identifiers:
chr2:g.179455843A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178591116A>G , CM000664.2:g.178591116A>G | GRCh38 |
| NC_000002.11:g.179455843A>G , CM000664.1:g.179455843A>G | GRCh37 |
| NC_000002.10:g.179164089A>G | NCBI36 |
| NG_011618.3:g.244687T>C , LRG_391:g.244687T>C | |
| NG_051363.1:g.73290A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.52905T>C (TTN) | ENSP00000343764.6:p.Pro17635= | |
| ENST00000342175.11:c.33990T>C (TTN) | ENSP00000340554.6:p.Pro11330= | |
| ENST00000359218.10:c.33789T>C (TTN) | ENSP00000352154.5:p.Pro11263= | |
| ENST00000342175.10:c.33990T>C (TTN) | ENSP00000340554.6:p.Pro11330= | |
| ENST00000342992.10:c.52905T>C (TTN) | ENSP00000343764.6:p.Pro17635= | |
| ENST00000359218.9:c.33789T>C (TTN) | ENSP00000352154.5:p.Pro11263= | |
| ENST00000460472.6:c.33414T>C (TTN) | ENSP00000434586.1:p.Pro11138= | |
| ENST00000589042.5:c.60609T>C (TTN) MANE Select | ENSP00000467141.1:p.Pro20203= | |
| ENST00000591111.5:c.55686T>C (TTN) | ENSP00000465570.1:p.Pro18562= | |
| ENST00000615779.4:c.55686T>C (TTN) | ENSP00000483597.1:p.Pro18562= | |
| NM_001256850.1:c.55686T>C (TTN) | NP_001243779.1:p.Pro18562= | |
| NM_001267550.2:c.60609T>C (TTN) MANE Select | NP_001254479.2:p.Pro20203= | |
| NM_003319.4:c.33414T>C (TTN) | NP_003310.4:p.Pro11138= | |
| NM_133378.4:c.52905T>C (TTN) | NP_596869.4:p.Pro17635= | |
| NM_133432.3:c.33789T>C (TTN) | NP_597676.3:p.Pro11263= | |
| NM_133437.4:c.33990T>C (TTN) | NP_597681.4:p.Pro11330= | |
| NR_038271.1:n.597-6480A>G (TTN-AS1) | ||
| NR_038272.1:n.3189-23A>G (TTN-AS1) | ||
| XM_011511729.1:c.59706T>C (TTN) | XP_011510031.1:p.Pro19902= | |
| XM_011511730.1:c.33600T>C (TTN) | XP_011510032.1:p.Pro11200= | |
| XM_011511731.1:c.33459T>C (TTN) | XP_011510033.1:p.Pro11153= | |
| XM_017004819.1:c.59502T>C (TTN) | XP_016860308.1:p.Pro19834= | |
| XM_017004820.1:c.54900T>C (TTN) | XP_016860309.1:p.Pro18300= | |
| XM_017004821.1:c.54897T>C (TTN) | XP_016860310.1:p.Pro18299= | |
| XM_017004822.1:c.51939T>C (TTN) | XP_016860311.1:p.Pro17313= | |
| XM_017004823.1:c.33555T>C (TTN) | XP_016860312.1:p.Pro11185= | |
| XM_024453094.1:c.55050T>C (TTN) | XP_024308862.1:p.Pro18350= | |
| XM_024453095.1:c.55047T>C (TTN) | XP_024308863.1:p.Pro18349= | |
| XM_024453096.1:c.54480T>C (TTN) | XP_024308864.1:p.Pro18160= | |
| XM_024453097.1:c.51822T>C (TTN) | XP_024308865.1:p.Pro17274= | |
| XM_024453098.1:c.51741T>C (TTN) | XP_024308866.1:p.Pro17247= | |
| XM_024453099.1:c.33504T>C (TTN) | XP_024308867.1:p.Pro11168= | |
| XM_024453100.1:c.23358T>C (TTN) | XP_024308868.1:p.Pro7786= |