Linked Data
ClinVar Variation Id:
223314
ClinVar RCV Id:
RCV000209814
RCV000786239
RCV001239700
RCV002057055
RCV001798696
RCV002453754
RCV002503827
dbSNP Id:
rs764243269
ExAC:
2:179452435 G / A
gnomAD v2:
2-179452435-G-A
gnomAD v3:
2-178587708-G-A
gnomAD v4:
2-178587708-G-A
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178587708G>A , CM000664.2:g.178587708G>A | GRCh38 |
| NC_000002.11:g.179452435G>A , CM000664.1:g.179452435G>A | GRCh37 |
| NC_000002.10:g.179160681G>A | NCBI36 |
| NG_011618.3:g.248095C>T , LRG_391:g.248095C>T | |
| NG_051363.1:g.69882G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.55897C>T (TTN) | ENSP00000343764.6:p.Arg18633Ter | |
| ENST00000342175.11:c.36982C>T (TTN) | ENSP00000340554.6:p.Arg12328Ter | |
| ENST00000359218.10:c.36781C>T (TTN) | ENSP00000352154.5:p.Arg12261Ter | |
| ENST00000342175.10:c.36982C>T (TTN) | ENSP00000340554.6:p.Arg12328Ter | |
| ENST00000342992.10:c.55897C>T (TTN) | ENSP00000343764.6:p.Arg18633Ter | |
| ENST00000359218.9:c.36781C>T (TTN) | ENSP00000352154.5:p.Arg12261Ter | |
| ENST00000460472.6:c.36406C>T (TTN) | ENSP00000434586.1:p.Arg12136Ter | |
| ENST00000589042.5:c.63601C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg21201Ter | |
| ENST00000591111.5:c.58678C>T (TTN) | ENSP00000465570.1:p.Arg19560Ter | |
| ENST00000615779.4:c.58678C>T (TTN) | ENSP00000483597.1:p.Arg19560Ter | |
| NM_001256850.1:c.58678C>T (TTN) | NP_001243779.1:p.Arg19560Ter | |
| NM_001267550.2:c.63601C>T (TTN) MANE Select | NP_001254479.2:p.Arg21201Ter | |
| NM_003319.4:c.36406C>T (TTN) | NP_003310.4:p.Arg12136Ter | |
| NM_133378.4:c.55897C>T (TTN) | NP_596869.4:p.Arg18633Ter | |
| NM_133432.3:c.36781C>T (TTN) | NP_597676.3:p.Arg12261Ter | |
| NM_133437.4:c.36982C>T (TTN) | NP_597681.4:p.Arg12328Ter | |
| NR_038271.1:n.597-9888G>A (TTN-AS1) | ||
| NR_038272.1:n.3188+2715G>A (TTN-AS1) | ||
| XM_011511729.1:c.62698C>T (TTN) | XP_011510031.1:p.Arg20900Ter | |
| XM_011511730.1:c.36592C>T (TTN) | XP_011510032.1:p.Arg12198Ter | |
| XM_011511731.1:c.36451C>T (TTN) | XP_011510033.1:p.Arg12151Ter | |
| XM_017004819.1:c.62494C>T (TTN) | XP_016860308.1:p.Arg20832Ter | |
| XM_017004820.1:c.57892C>T (TTN) | XP_016860309.1:p.Arg19298Ter | |
| XM_017004821.1:c.57889C>T (TTN) | XP_016860310.1:p.Arg19297Ter | |
| XM_017004822.1:c.54931C>T (TTN) | XP_016860311.1:p.Arg18311Ter | |
| XM_017004823.1:c.36547C>T (TTN) | XP_016860312.1:p.Arg12183Ter | |
| XM_024453094.1:c.58042C>T (TTN) | XP_024308862.1:p.Arg19348Ter | |
| XM_024453095.1:c.58039C>T (TTN) | XP_024308863.1:p.Arg19347Ter | |
| XM_024453096.1:c.57472C>T (TTN) | XP_024308864.1:p.Arg19158Ter | |
| XM_024453097.1:c.54814C>T (TTN) | XP_024308865.1:p.Arg18272Ter | |
| XM_024453098.1:c.54733C>T (TTN) | XP_024308866.1:p.Arg18245Ter | |
| XM_024453099.1:c.36496C>T (TTN) | XP_024308867.1:p.Arg12166Ter | |
| XM_024453100.1:c.26350C>T (TTN) | XP_024308868.1:p.Arg8784Ter |