Linked Data
ClinVar Variation Id:
1659231
ClinVar RCV Id:
RCV002178334
dbSNP Id:
rs2148214704
MyVariant Identifiers:
chr2:g.27534790G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27311922G>A , CM000664.2:g.27311922G>A | GRCh38 |
| NC_000002.11:g.27534790G>A , CM000664.1:g.27534790G>A | GRCh37 |
| NC_000002.10:g.27388294G>A | NCBI36 |
| NG_008075.1:g.15642C>T | |
| NG_033055.1:g.1341C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380044.6:c.438C>T MANE Select | ENSP00000369383.1:p.Phe146= | |
| ENST00000233545.6:c.438C>T | ENSP00000233545.2:p.Phe146= | |
| ENST00000357186.10:c.270C>T | ENSP00000349713.6:p.Phe90= | |
| ENST00000380044.5:c.438C>T | ENSP00000369383.1:p.Phe146= | |
| ENST00000402310.5:c.408+292C>T | ENSP00000383955.1:n.408+292C>T | |
| ENST00000402722.5:c.*40+572C>T | ENSP00000386000.1:n.*40+572C>T | |
| ENST00000403262.6:c.438C>T | ENSP00000385671.1:p.Phe146= | |
| ENST00000405076.5:c.249C>T | ENSP00000385175.1:p.Phe83= | |
| ENST00000405983.5:c.483C>T | ENSP00000384586.1:p.Phe161= | |
| ENST00000415514.5:c.*239C>T | ENSP00000388043.1:n.*239C>T | |
| ENST00000426513.6:c.*103C>T | ENSP00000403824.2:n.*103C>T | |
| ENST00000430991.5:c.272C>T | ||
| ENST00000616707.1:n.1466C>T | ||
| ENST00000620797.4:n.111C>T | ||
| ENST00000621183.4:n.741C>T | ||
| NM_002437.4:c.438C>T | NP_002428.1:p.Phe146= | |
| XM_005264326.2:c.438C>T | XP_005264383.1:p.Phe146= | |
| XM_005264327.2:c.279C>T | XP_005264384.1:p.Phe93= | |
| XM_006712021.2:c.390C>T | XP_006712084.1:p.Phe130= | |
| XM_005264326.4:c.438C>T | XP_005264383.1:p.Phe146= | |
| XM_006712021.3:c.390C>T | XP_006712084.1:p.Phe130= | |
| XM_017004150.1:c.420C>T | XP_016859639.1:p.Phe140= | |
| XM_017004151.1:c.390C>T | XP_016859640.1:p.Phe130= | |
| XM_017004152.1:c.279C>T | XP_016859641.1:p.Phe93= | |
| XM_024452913.1:c.390C>T | XP_024308681.1:p.Phe130= | |
| NM_002437.5:c.438C>T MANE Select | NP_002428.1:p.Phe146= |