Linked Data
ClinVar Variation Id:
1108956
ClinVar RCV Id:
RCV001434649
dbSNP Id:
rs374189575
gnomAD v4:
2-26195170-G-C
MyVariant Identifiers:
chr2:g.26418039G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26195170G>C , CM000664.2:g.26195170G>C | GRCh38 |
| NC_000002.11:g.26418039G>C , CM000664.1:g.26418039G>C | GRCh37 |
| NC_000002.10:g.26271543G>C | NCBI36 |
| NG_007121.1:g.54451C>G | |
| NG_007121.2:g.54452C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1542C>G (HADHA) MANE Select | ENSP00000370023.3:p.Thr514= | |
| ENST00000492433.2:c.1542C>G (HADHA) | ENSP00000438039.2:p.Thr514= | |
| ENST00000643057.1:c.*1433C>G (HADHA) | ENSP00000493761.1:n.*1433C>G | |
| ENST00000643063.1:c.*588C>G (HADHA) | ENSP00000495353.1:n.*588C>G | |
| ENST00000643233.1:c.*1433C>G (HADHA) | ENSP00000493880.1:n.*1433C>G | |
| ENST00000644428.1:c.*166C>G (HADHA) | ENSP00000495560.1:n.*166C>G | |
| ENST00000645274.1:c.1437C>G (HADHA) | ENSP00000493996.1:p.Thr479= | |
| ENST00000646031.1:c.901C>G (HADHA) | ||
| ENST00000646483.1:c.1408C>G (HADHA) | ENSP00000496185.1:n.1408C>G | |
| ENST00000380649.7:c.1542C>G (HADHA) | ENSP00000370023.3:p.Thr514= | |
| NM_000182.4:c.1542C>G (HADHA) | NP_000173.2:p.Thr514= | |
| XM_011532567.1:c.1684-7063G>C (GAREM2) | XP_011530869.1:n.1684-7063G>C | |
| XM_011532567.3:c.1684-7063G>C (GAREM2) | XP_011530869.1:n.1684-7063G>C | |
| NM_000182.5:c.1542C>G (HADHA) MANE Select | NP_000173.2:p.Thr514= |