Linked Data
ClinVar Variation Id:
2117967
ClinVar RCV Id:
RCV003030239
MyVariant Identifiers:
chr2:g.26426957G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26204088G>A , CM000664.2:g.26204088G>A | GRCh38 |
| NC_000002.11:g.26426957G>A , CM000664.1:g.26426957G>A | GRCh37 |
| NC_000002.10:g.26280461G>A | NCBI36 |
| NG_007121.1:g.45533C>T | |
| NG_007121.2:g.45534C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1194C>T MANE Select | ENSP00000370023.3:p.Asp398= | |
| ENST00000492433.2:c.1194C>T | ENSP00000438039.2:p.Asp398= | |
| ENST00000643057.1:c.*1085C>T | ENSP00000493761.1:n.*1085C>T | |
| ENST00000643063.1:c.*240C>T | ENSP00000495353.1:n.*240C>T | |
| ENST00000643233.1:c.*1085C>T | ENSP00000493880.1:n.*1085C>T | |
| ENST00000644428.1:c.1194C>T | ENSP00000495560.1:p.Asp398= | |
| ENST00000645274.1:c.1089C>T | ENSP00000493996.1:p.Asp363= | |
| ENST00000646031.1:c.553C>T | ||
| ENST00000646483.1:c.1060C>T | ENSP00000496185.1:n.1060C>T | |
| ENST00000380649.7:c.1194C>T | ENSP00000370023.3:p.Asp398= | |
| NM_000182.4:c.1194C>T | NP_000173.2:p.Asp398= | |
| NM_000182.5:c.1194C>T MANE Select | NP_000173.2:p.Asp398= |