ClinVar RCV:
ClinVar Variation:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.0000031 (NFE)
MyVariant.info:
GRCh37
chr2:g.179479464G>A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614737G>A , CM000664.2:g.178614737G>A | GRCh38 |
| NC_000002.11:g.179479464G>A , CM000664.1:g.179479464G>A | GRCh37 |
| NC_000002.10:g.179187709G>A | NCBI36 |
| NG_011618.3:g.221066C>T , LRG_391:g.221066C>T | |
| NG_051363.1:g.96911G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41073C>T (TTN) | ENSP00000343764.6:p.Phe13691= | |
| ENST00000342175.11:c.22158C>T (TTN) | ENSP00000340554.6:p.Phe7386= | |
| ENST00000359218.10:c.21957C>T (TTN) | ENSP00000352154.5:p.Phe7319= | |
| ENST00000342175.10:c.22158C>T (TTN) | ENSP00000340554.6:p.Phe7386= | |
| ENST00000342992.10:c.41073C>T (TTN) | ENSP00000343764.6:p.Phe13691= | |
| ENST00000359218.9:c.21957C>T (TTN) | ENSP00000352154.5:p.Phe7319= | |
| ENST00000460472.6:c.21582C>T (TTN) | ENSP00000434586.1:p.Phe7194= | |
| ENST00000589042.5:c.48777C>T (TTN) MANE Select | ENSP00000467141.1:p.Phe16259= | |
| ENST00000591111.5:c.43854C>T (TTN) | ENSP00000465570.1:p.Phe14618= | |
| ENST00000615779.4:c.43854C>T (TTN) | ENSP00000483597.1:p.Phe14618= | |
| NM_001256850.1:c.43854C>T (TTN) | NP_001243779.1:p.Phe14618= | |
| NM_001267550.2:c.48777C>T (TTN) MANE Select | NP_001254479.2:p.Phe16259= | |
| NM_003319.4:c.21582C>T (TTN) | NP_003310.4:p.Phe7194= | |
| NM_133378.4:c.41073C>T (TTN) | NP_596869.4:p.Phe13691= | |
| NM_133432.3:c.21957C>T (TTN) | NP_597676.3:p.Phe7319= | |
| NM_133437.4:c.22158C>T (TTN) | NP_597681.4:p.Phe7386= | |
| NR_038271.1:n.1485G>A (TTN-AS1) | ||
| XM_011511729.1:c.47874C>T (TTN) | XP_011510031.1:p.Phe15958= | |
| XM_011511730.1:c.21768C>T (TTN) | XP_011510032.1:p.Phe7256= | |
| XM_011511731.1:c.21627C>T (TTN) | XP_011510033.1:p.Phe7209= | |
| XM_017004819.1:c.47670C>T (TTN) | XP_016860308.1:p.Phe15890= | |
| XM_017004820.1:c.43068C>T (TTN) | XP_016860309.1:p.Phe14356= | |
| XM_017004821.1:c.43065C>T (TTN) | XP_016860310.1:p.Phe14355= | |
| XM_017004822.1:c.40107C>T (TTN) | XP_016860311.1:p.Phe13369= | |
| XM_017004823.1:c.21723C>T (TTN) | XP_016860312.1:p.Phe7241= | |
| XM_024453094.1:c.43218C>T (TTN) | XP_024308862.1:p.Phe14406= | |
| XM_024453095.1:c.43215C>T (TTN) | XP_024308863.1:p.Phe14405= | |
| XM_024453096.1:c.42648C>T (TTN) | XP_024308864.1:p.Phe14216= | |
| XM_024453097.1:c.39990C>T (TTN) | XP_024308865.1:p.Phe13330= | |
| XM_024453098.1:c.39909C>T (TTN) | XP_024308866.1:p.Phe13303= | |
| XM_024453099.1:c.21672C>T (TTN) | XP_024308867.1:p.Phe7224= | |
| XM_024453100.1:c.11526C>T (TTN) | XP_024308868.1:p.Phe3842= |