Linked Data
ClinVar Variation Id:
1083256
ClinVar RCV Id:
RCV001399885
dbSNP Id:
rs2147748660
gnomAD v4:
2-26191256-G-A
MyVariant Identifiers:
chr2:g.26414125G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26191256G>A , CM000664.2:g.26191256G>A | GRCh38 |
| NC_000002.11:g.26414125G>A , CM000664.1:g.26414125G>A | GRCh37 |
| NC_000002.10:g.26267629G>A | NCBI36 |
| NG_007121.1:g.58365C>T | |
| NG_007121.2:g.58366C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.2286C>T (HADHA) MANE Select | ENSP00000370023.3:p.Tyr762= | |
| ENST00000492433.2:c.2373C>T (HADHA) | ENSP00000438039.2:p.Tyr791= | |
| ENST00000643057.1:c.*2264C>T (HADHA) | ENSP00000493761.1:n.*2264C>T | |
| ENST00000643063.1:c.*1332C>T (HADHA) | ENSP00000495353.1:n.*1332C>T | |
| ENST00000643233.1:c.*2177C>T (HADHA) | ENSP00000493880.1:n.*2177C>T | |
| ENST00000644428.1:c.*910C>T (HADHA) | ENSP00000495560.1:n.*910C>T | |
| ENST00000645274.1:c.2181C>T (HADHA) | ENSP00000493996.1:p.Tyr727= | |
| ENST00000646031.1:c.1645C>T (HADHA) | ||
| ENST00000646483.1:c.2152C>T (HADHA) | ENSP00000496185.1:n.2152C>T | |
| ENST00000380649.7:c.2286C>T (HADHA) | ENSP00000370023.3:p.Tyr762= | |
| NM_000182.4:c.2286C>T (HADHA) | NP_000173.2:p.Tyr762= | |
| XM_011532567.1:c.1683+3941G>A (GAREM2) | XP_011530869.1:n.1683+3941G>A | |
| XM_011532567.3:c.1683+3941G>A (GAREM2) | XP_011530869.1:n.1683+3941G>A | |
| NM_000182.5:c.2286C>T (HADHA) MANE Select | NP_000173.2:p.Tyr762= |