Linked Data
ClinVar Variation Id:
2796341
ClinVar RCV Id:
RCV003668140
MyVariant Identifiers:
chr2:g.27534793G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27311925G>A , CM000664.2:g.27311925G>A | GRCh38 |
| NC_000002.11:g.27534793G>A , CM000664.1:g.27534793G>A | GRCh37 |
| NC_000002.10:g.27388297G>A | NCBI36 |
| NG_008075.1:g.15639C>T | |
| NG_033055.1:g.1338C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380044.6:c.435C>T MANE Select | ENSP00000369383.1:p.Asn145= | |
| ENST00000233545.6:c.435C>T | ENSP00000233545.2:p.Asn145= | |
| ENST00000357186.10:c.267C>T | ENSP00000349713.6:p.Asn89= | |
| ENST00000380044.5:c.435C>T | ENSP00000369383.1:p.Asn145= | |
| ENST00000402310.5:c.408+289C>T | ENSP00000383955.1:n.408+289C>T | |
| ENST00000402722.5:c.*40+569C>T | ENSP00000386000.1:n.*40+569C>T | |
| ENST00000403262.6:c.435C>T | ENSP00000385671.1:p.Asn145= | |
| ENST00000405076.5:c.246C>T | ENSP00000385175.1:p.Asn82= | |
| ENST00000405983.5:c.480C>T | ENSP00000384586.1:p.Asn160= | |
| ENST00000415514.5:c.*236C>T | ENSP00000388043.1:n.*236C>T | |
| ENST00000426513.6:c.*100C>T | ENSP00000403824.2:n.*100C>T | |
| ENST00000430991.5:c.269C>T | ||
| ENST00000616707.1:n.1463C>T | ||
| ENST00000620797.4:n.108C>T | ||
| ENST00000621183.4:n.738C>T | ||
| NM_002437.4:c.435C>T | NP_002428.1:p.Asn145= | |
| XM_005264326.2:c.435C>T | XP_005264383.1:p.Asn145= | |
| XM_005264327.2:c.276C>T | XP_005264384.1:p.Asn92= | |
| XM_006712021.2:c.387C>T | XP_006712084.1:p.Asn129= | |
| XM_005264326.4:c.435C>T | XP_005264383.1:p.Asn145= | |
| XM_006712021.3:c.387C>T | XP_006712084.1:p.Asn129= | |
| XM_017004150.1:c.417C>T | XP_016859639.1:p.Asn139= | |
| XM_017004151.1:c.387C>T | XP_016859640.1:p.Asn129= | |
| XM_017004152.1:c.276C>T | XP_016859641.1:p.Asn92= | |
| XM_024452913.1:c.387C>T | XP_024308681.1:p.Asn129= | |
| NM_002437.5:c.435C>T MANE Select | NP_002428.1:p.Asn145= |