Linked Data
ClinVar Variation Id:
1152432
ClinVar RCV Id:
RCV001493741
dbSNP Id:
rs1669489360
MyVariant Identifiers:
chr2:g.26414152A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26191283A>G , CM000664.2:g.26191283A>G | GRCh38 |
| NC_000002.11:g.26414152A>G , CM000664.1:g.26414152A>G | GRCh37 |
| NC_000002.10:g.26267656A>G | NCBI36 |
| NG_007121.1:g.58338T>C | |
| NG_007121.2:g.58339T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.2259T>C (HADHA) MANE Select | ENSP00000370023.3:p.His753= | |
| ENST00000492433.2:c.2346T>C (HADHA) | ENSP00000438039.2:p.His782= | |
| ENST00000643057.1:c.*2237T>C (HADHA) | ENSP00000493761.1:n.*2237T>C | |
| ENST00000643063.1:c.*1305T>C (HADHA) | ENSP00000495353.1:n.*1305T>C | |
| ENST00000643233.1:c.*2150T>C (HADHA) | ENSP00000493880.1:n.*2150T>C | |
| ENST00000644428.1:c.*883T>C (HADHA) | ENSP00000495560.1:n.*883T>C | |
| ENST00000645274.1:c.2154T>C (HADHA) | ENSP00000493996.1:p.His718= | |
| ENST00000646031.1:c.1618T>C (HADHA) | ||
| ENST00000646483.1:c.2125T>C (HADHA) | ENSP00000496185.1:n.2125T>C | |
| ENST00000380649.7:c.2259T>C (HADHA) | ENSP00000370023.3:p.His753= | |
| NM_000182.4:c.2259T>C (HADHA) | NP_000173.2:p.His753= | |
| XM_011532567.1:c.1683+3968A>G (GAREM2) | XP_011530869.1:n.1683+3968A>G | |
| XM_011532567.3:c.1683+3968A>G (GAREM2) | XP_011530869.1:n.1683+3968A>G | |
| NM_000182.5:c.2259T>C (HADHA) MANE Select | NP_000173.2:p.His753= |