Linked Data
ClinVar Variation Id:
202935
dbSNP Id:
rs794729519
MyVariant Identifiers:
chr2:g.179424361_179424362delinsAA (hg19)
chr2:g.178559634_178559635delinsAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178559634_178559635delinsAA , CM000664.2:g.178559634_178559635delinsAA | GRCh38 |
| NC_000002.11:g.179424361_179424362delinsAA , CM000664.1:g.179424361_179424362delinsAA | GRCh37 |
| NC_000002.10:g.179132607_179132608delinsAA | NCBI36 |
| NG_011618.3:g.276168_276169delinsTT , LRG_391:g.276168_276169delinsTT | |
| NG_051363.1:g.41808_41809delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.78793_78794delinsTT (TTN) | ENSP00000343764.6:p.Ala26265Phe | |
| ENST00000342175.11:c.59878_59879delinsTT (TTN) | ENSP00000340554.6:p.Ala19960Phe | |
| ENST00000359218.10:c.59677_59678delinsTT (TTN) | ENSP00000352154.5:p.Ala19893Phe | |
| ENST00000342175.10:c.59878_59879delinsTT (TTN) | ENSP00000340554.6:p.Ala19960Phe | |
| ENST00000342992.10:c.78793_78794delinsTT (TTN) | ENSP00000343764.6:p.Ala26265Phe | |
| ENST00000359218.9:c.59677_59678delinsTT (TTN) | ENSP00000352154.5:p.Ala19893Phe | |
| ENST00000460472.6:c.59302_59303delinsTT (TTN) | ENSP00000434586.1:p.Ala19768Phe | |
| ENST00000589042.5:c.86497_86498delinsTT (TTN) MANE Select | ENSP00000467141.1:p.Ala28833Phe | |
| ENST00000591111.5:c.81574_81575delinsTT (TTN) | ENSP00000465570.1:p.Ala27192Phe | |
| ENST00000615779.4:c.81574_81575delinsTT (TTN) | ENSP00000483597.1:p.Ala27192Phe | |
| NM_001256850.1:c.81574_81575delinsTT (TTN) | NP_001243779.1:p.Ala27192Phe | |
| NM_001267550.2:c.86497_86498delinsTT (TTN) MANE Select | NP_001254479.2:p.Ala28833Phe | |
| NM_003319.4:c.59302_59303delinsTT (TTN) | NP_003310.4:p.Ala19768Phe | |
| NM_133378.4:c.78793_78794delinsTT (TTN) | NP_596869.4:p.Ala26265Phe | |
| NM_133432.3:c.59677_59678delinsTT (TTN) | NP_597676.3:p.Ala19893Phe | |
| NM_133437.4:c.59878_59879delinsTT (TTN) | NP_597681.4:p.Ala19960Phe | |
| NR_038271.1:n.447-11666_447-11665delinsAA (TTN-AS1) | ||
| NR_038272.1:n.2043+17273_2043+17274delinsAA (TTN-AS1) | ||
| XM_011511729.1:c.85594_85595delinsTT (TTN) | XP_011510031.1:p.Ala28532Phe | |
| XM_011511730.1:c.59488_59489delinsTT (TTN) | XP_011510032.1:p.Ala19830Phe | |
| XM_011511731.1:c.59347_59348delinsTT (TTN) | XP_011510033.1:p.Ala19783Phe | |
| XM_017004819.1:c.85390_85391delinsTT (TTN) | XP_016860308.1:p.Ala28464Phe | |
| XM_017004820.1:c.80788_80789delinsTT (TTN) | XP_016860309.1:p.Ala26930Phe | |
| XM_017004821.1:c.80785_80786delinsTT (TTN) | XP_016860310.1:p.Ala26929Phe | |
| XM_017004822.1:c.77827_77828delinsTT (TTN) | XP_016860311.1:p.Ala25943Phe | |
| XM_017004823.1:c.59443_59444delinsTT (TTN) | XP_016860312.1:p.Ala19815Phe | |
| XM_024453094.1:c.80938_80939delinsTT (TTN) | XP_024308862.1:p.Ala26980Phe | |
| XM_024453095.1:c.80935_80936delinsTT (TTN) | XP_024308863.1:p.Ala26979Phe | |
| XM_024453096.1:c.80368_80369delinsTT (TTN) | XP_024308864.1:p.Ala26790Phe | |
| XM_024453097.1:c.77710_77711delinsTT (TTN) | XP_024308865.1:p.Ala25904Phe | |
| XM_024453098.1:c.77629_77630delinsTT (TTN) | XP_024308866.1:p.Ala25877Phe | |
| XM_024453099.1:c.59392_59393delinsTT (TTN) | XP_024308867.1:p.Ala19798Phe | |
| XM_024453100.1:c.49246_49247delinsTT (TTN) | XP_024308868.1:p.Ala16416Phe |