Linked Data
ClinVar Variation Id:
554064
ClinVar RCV Id:
RCV000669623
dbSNP Id:
rs1553311646
MyVariant Identifiers:
chr2:g.26191314_26191316dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26191315_26191317dup , CM000664.2:g.26191315_26191317dup | GRCh38 |
| NC_000002.11:g.26414184_26414186dup , CM000664.1:g.26414184_26414186dup | GRCh37 |
| NC_000002.10:g.26267688_26267690dup | NCBI36 |
| NG_007121.1:g.58305_58307dup | |
| NG_007121.2:g.58306_58308dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.2226_2228dup (HADHA) MANE Select | ENSP00000370023.3:p.Gln743_Phe744insGln | |
| ENST00000492433.2:c.2313_2315dup (HADHA) | ENSP00000438039.2:p.Gln772_Phe773insGln | |
| ENST00000643057.1:c.*2204_*2206dup (HADHA) | ENSP00000493761.1:n.*2204_*2206dup | |
| ENST00000643063.1:c.*1272_*1274dup (HADHA) | ENSP00000495353.1:n.*1272_*1274dup | |
| ENST00000643233.1:c.*2117_*2119dup (HADHA) | ENSP00000493880.1:n.*2117_*2119dup | |
| ENST00000644428.1:c.*850_*852dup (HADHA) | ENSP00000495560.1:n.*850_*852dup | |
| ENST00000645274.1:c.2121_2123dup (HADHA) | ENSP00000493996.1:p.Gln708_Phe709insGln | |
| ENST00000646031.1:c.1585_1587dup (HADHA) | ||
| ENST00000646483.1:c.2092_2094dup (HADHA) | ENSP00000496185.1:n.2092_2094dup | |
| ENST00000380649.7:c.2226_2228dup (HADHA) | ENSP00000370023.3:p.Gln743_Phe744insGln | |
| NM_000182.4:c.2226_2228dup (HADHA) | NP_000173.2:p.Gln743_Phe744insGln | |
| XM_011532567.1:c.1683+4000_1683+4002dup (GAREM2) | XP_011530869.1:n.1683+4000_1683+4002dup | |
| XM_011532567.3:c.1683+4000_1683+4002dup (GAREM2) | XP_011530869.1:n.1683+4000_1683+4002dup | |
| NM_000182.5:c.2226_2228dup (HADHA) MANE Select | NP_000173.2:p.Gln743_Phe744insGln |