Linked Data
ClinVar Variation Id:
1528058
ClinVar RCV Id:
RCV002071069
dbSNP Id:
rs2105041390
MyVariant Identifiers:
chr2:g.150426539G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149570025G>A , CM000664.2:g.149570025G>A | GRCh38 |
| NC_000002.11:g.150426539G>A , CM000664.1:g.150426539G>A | GRCh37 |
| NC_000002.10:g.150134785G>A | NCBI36 |
| NG_009189.1:g.22792C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.840C>T MANE Select | ENSP00000301920.5:p.Phe280= | |
| ENST00000303319.9:c.840C>T | ENSP00000301920.5:p.Phe280= | |
| ENST00000422782.2:c.942C>T | ENSP00000408331.2:p.Phe314= | |
| ENST00000428879.5:c.840C>T | ENSP00000389060.1:p.Phe280= | |
| NM_015702.2:c.840C>T | NP_056517.1:p.Phe280= | |
| NM_015702.3:c.840C>T MANE Select | NP_056517.1:p.Phe280= |