Linked Data
ClinVar Variation Id:
2105715
ClinVar RCV Id:
RCV003023595
MyVariant Identifiers:
chr2:g.26417967C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26195098C>A , CM000664.2:g.26195098C>A | GRCh38 |
| NC_000002.11:g.26417967C>A , CM000664.1:g.26417967C>A | GRCh37 |
| NC_000002.10:g.26271471C>A | NCBI36 |
| NG_007121.1:g.54523G>T | |
| NG_007121.2:g.54524G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1614G>T (HADHA) MANE Select | ENSP00000370023.3:p.Val538= | |
| ENST00000492433.2:c.1614G>T (HADHA) | ENSP00000438039.2:p.Val538= | |
| ENST00000643057.1:c.*1505G>T (HADHA) | ENSP00000493761.1:n.*1505G>T | |
| ENST00000643063.1:c.*660G>T (HADHA) | ENSP00000495353.1:n.*660G>T | |
| ENST00000643233.1:c.*1505G>T (HADHA) | ENSP00000493880.1:n.*1505G>T | |
| ENST00000644428.1:c.*238G>T (HADHA) | ENSP00000495560.1:n.*238G>T | |
| ENST00000645274.1:c.1509G>T (HADHA) | ENSP00000493996.1:p.Val503= | |
| ENST00000646031.1:c.973G>T (HADHA) | ||
| ENST00000646483.1:c.1480G>T (HADHA) | ENSP00000496185.1:n.1480G>T | |
| ENST00000380649.7:c.1614G>T (HADHA) | ENSP00000370023.3:p.Val538= | |
| ENST00000492433.1:c.72G>T (HADHA) | ENSP00000438039.1:p.Val24= | |
| NM_000182.4:c.1614G>T (HADHA) | NP_000173.2:p.Val538= | |
| XM_011532567.1:c.1684-7135C>A (GAREM2) | XP_011530869.1:n.1684-7135C>A | |
| XM_011532567.3:c.1684-7135C>A (GAREM2) | XP_011530869.1:n.1684-7135C>A | |
| NM_000182.5:c.1614G>T (HADHA) MANE Select | NP_000173.2:p.Val538= |