Linked Data
ClinVar Variation Id:
223327
ClinVar RCV Id:
RCV000209107
dbSNP Id:
rs869312083
MyVariant Identifiers:
chr2:g.179411593dupG (hg19)
chr2:g.179411592_179411593insG (hg19)
chr2:g.178546866dupG (hg38)
chr2:g.178546865_178546866insG (hg38)
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546866dup , CM000664.2:g.178546866dup | GRCh38 |
| NC_000002.11:g.179411593dup , CM000664.1:g.179411593dup | GRCh37 |
| NC_000002.10:g.179119839dup | NCBI36 |
| NG_011618.3:g.288937dup , LRG_391:g.288937dup | |
| NG_051363.1:g.29040dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.86858dup (TTN) | ENSP00000343764.6:p.Thr28954AsnfsTer12 | |
| ENST00000342175.11:c.67943dup (TTN) | ENSP00000340554.6:p.Thr22649AsnfsTer12 | |
| ENST00000359218.10:c.67742dup (TTN) | ENSP00000352154.5:p.Thr22582AsnfsTer12 | |
| ENST00000342175.10:c.67943dup (TTN) | ENSP00000340554.6:p.Thr22649AsnfsTer12 | |
| ENST00000342992.10:c.86858dup (TTN) | ENSP00000343764.6:p.Thr28954AsnfsTer12 | |
| ENST00000359218.9:c.67742dup (TTN) | ENSP00000352154.5:p.Thr22582AsnfsTer12 | |
| ENST00000460472.6:c.67367dup (TTN) | ENSP00000434586.1:p.Thr22457AsnfsTer12 | |
| ENST00000589042.5:c.94562dup (TTN) MANE Select | ENSP00000467141.1:p.Thr31522AsnfsTer12 | |
| ENST00000591111.5:c.89639dup (TTN) | ENSP00000465570.1:p.Thr29881AsnfsTer12 | |
| ENST00000615779.4:c.89639dup (TTN) | ENSP00000483597.1:p.Thr29881AsnfsTer12 | |
| NM_001256850.1:c.89639dup (TTN) | NP_001243779.1:p.Thr29881AsnfsTer12 | |
| NM_001267550.2:c.94562dup (TTN) MANE Select | NP_001254479.2:p.Thr31522AsnfsTer12 | |
| NM_003319.4:c.67367dup (TTN) | NP_003310.4:p.Thr22457AsnfsTer12 | |
| NM_133378.4:c.86858dup (TTN) | NP_596869.4:p.Thr28954AsnfsTer12 | |
| NM_133432.3:c.67742dup (TTN) | NP_597676.3:p.Thr22582AsnfsTer12 | |
| NM_133437.4:c.67943dup (TTN) | NP_597681.4:p.Thr22649AsnfsTer12 | |
| NR_038271.1:n.446+23230dup (TTN-AS1) | ||
| NR_038272.1:n.2043+4505dup (TTN-AS1) | ||
| XM_011511729.1:c.93659dup (TTN) | XP_011510031.1:p.Thr31221AsnfsTer12 | |
| XM_011511730.1:c.67553dup (TTN) | XP_011510032.1:p.Thr22519AsnfsTer12 | |
| XM_011511731.1:c.67412dup (TTN) | XP_011510033.1:p.Thr22472AsnfsTer12 | |
| XM_017004819.1:c.93455dup (TTN) | XP_016860308.1:p.Thr31153AsnfsTer12 | |
| XM_017004820.1:c.88853dup (TTN) | XP_016860309.1:p.Thr29619AsnfsTer12 | |
| XM_017004821.1:c.88850dup (TTN) | XP_016860310.1:p.Thr29618AsnfsTer12 | |
| XM_017004822.1:c.85892dup (TTN) | XP_016860311.1:p.Thr28632AsnfsTer12 | |
| XM_017004823.1:c.67508dup (TTN) | XP_016860312.1:p.Thr22504AsnfsTer12 | |
| XM_024453094.1:c.89003dup (TTN) | XP_024308862.1:p.Thr29669AsnfsTer12 | |
| XM_024453095.1:c.89000dup (TTN) | XP_024308863.1:p.Thr29668AsnfsTer12 | |
| XM_024453096.1:c.88433dup (TTN) | XP_024308864.1:p.Thr29479AsnfsTer12 | |
| XM_024453097.1:c.85775dup (TTN) | XP_024308865.1:p.Thr28593AsnfsTer12 | |
| XM_024453098.1:c.85694dup (TTN) | XP_024308866.1:p.Thr28566AsnfsTer12 | |
| XM_024453099.1:c.67457dup (TTN) | XP_024308867.1:p.Thr22487AsnfsTer12 | |
| XM_024453100.1:c.57311dup (TTN) | XP_024308868.1:p.Thr19105AsnfsTer12 |