Linked Data
ClinVar Variation Id:
2947969
ClinVar RCV Id:
RCV003806791
MyVariant Identifiers:
chr2:g.26414170G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26191301G>A , CM000664.2:g.26191301G>A | GRCh38 |
| NC_000002.11:g.26414170G>A , CM000664.1:g.26414170G>A | GRCh37 |
| NC_000002.10:g.26267674G>A | NCBI36 |
| NG_007121.1:g.58320C>T | |
| NG_007121.2:g.58321C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.2241C>T (HADHA) MANE Select | ENSP00000370023.3:p.Cys747= | |
| ENST00000492433.2:c.2328C>T (HADHA) | ENSP00000438039.2:p.Cys776= | |
| ENST00000643057.1:c.*2219C>T (HADHA) | ENSP00000493761.1:n.*2219C>T | |
| ENST00000643063.1:c.*1287C>T (HADHA) | ENSP00000495353.1:n.*1287C>T | |
| ENST00000643233.1:c.*2132C>T (HADHA) | ENSP00000493880.1:n.*2132C>T | |
| ENST00000644428.1:c.*865C>T (HADHA) | ENSP00000495560.1:n.*865C>T | |
| ENST00000645274.1:c.2136C>T (HADHA) | ENSP00000493996.1:p.Cys712= | |
| ENST00000646031.1:c.1600C>T (HADHA) | ||
| ENST00000646483.1:c.2107C>T (HADHA) | ENSP00000496185.1:n.2107C>T | |
| ENST00000380649.7:c.2241C>T (HADHA) | ENSP00000370023.3:p.Cys747= | |
| NM_000182.4:c.2241C>T (HADHA) | NP_000173.2:p.Cys747= | |
| XM_011532567.1:c.1683+3986G>A (GAREM2) | XP_011530869.1:n.1683+3986G>A | |
| XM_011532567.3:c.1683+3986G>A (GAREM2) | XP_011530869.1:n.1683+3986G>A | |
| NM_000182.5:c.2241C>T (HADHA) MANE Select | NP_000173.2:p.Cys747= |