Linked Data
ClinVar Variation Id:
990645
ClinVar RCV Id:
RCV001278706
dbSNP Id:
rs1669919221
MyVariant Identifiers:
chr2:g.26427014G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26204145G>C , CM000664.2:g.26204145G>C | GRCh38 |
| NC_000002.11:g.26427014G>C , CM000664.1:g.26427014G>C | GRCh37 |
| NC_000002.10:g.26280518G>C | NCBI36 |
| NG_007121.1:g.45476C>G | |
| NG_007121.2:g.45477C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1137C>G MANE Select | ENSP00000370023.3:p.Val379= | |
| ENST00000492433.2:c.1137C>G | ENSP00000438039.2:p.Val379= | |
| ENST00000643057.1:c.*1028C>G | ENSP00000493761.1:n.*1028C>G | |
| ENST00000643063.1:c.*183C>G | ENSP00000495353.1:n.*183C>G | |
| ENST00000643233.1:c.*1028C>G | ENSP00000493880.1:n.*1028C>G | |
| ENST00000644428.1:c.1137C>G | ENSP00000495560.1:p.Val379= | |
| ENST00000645274.1:c.1032C>G | ENSP00000493996.1:p.Val344= | |
| ENST00000646031.1:c.496C>G | ||
| ENST00000646483.1:c.1003C>G | ENSP00000496185.1:n.1003C>G | |
| ENST00000380649.7:c.1137C>G | ENSP00000370023.3:p.Val379= | |
| NM_000182.4:c.1137C>G | NP_000173.2:p.Val379= | |
| NM_000182.5:c.1137C>G MANE Select | NP_000173.2:p.Val379= |