Linked Data
ClinVar Variation Id:
1787207
dbSNP Id:
rs201873551
MyVariant Identifiers:
chr2:g.215593556G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728832G>T , CM000664.2:g.214728832G>T | GRCh38 |
| NC_000002.11:g.215593556G>T , CM000664.1:g.215593556G>T | GRCh37 |
| NC_000002.10:g.215301801G>T | NCBI36 |
| NG_012047.2:g.85873C>A | |
| NG_012047.3:g.85880C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2178C>A MANE Select | ENSP00000260947.4:p.Pro726= | |
| ENST00000421162.2:c.825C>A | ENSP00000392245.2:p.Pro275= | |
| ENST00000613192.2:c.*241C>A | ENSP00000483275.2:n.*241C>A | |
| ENST00000613374.5:c.768C>A | ENSP00000484464.1:p.Pro256= | |
| ENST00000613706.5:c.1770C>A | ENSP00000484976.2:p.Pro590= | |
| ENST00000617164.5:c.2121C>A | ENSP00000480470.1:p.Pro707= | |
| ENST00000619009.5:c.639C>A | ENSP00000482293.1:p.Pro213= | |
| ENST00000650978.1:c.3553C>A | ||
| ENST00000260947.8:c.2178C>A | ENSP00000260947.4:p.Pro726= | |
| ENST00000432456.5:c.321C>A | ||
| ENST00000455743.5:c.*1798C>A | ENSP00000412186.1:n.*1798C>A | |
| ENST00000471590.5:n.513C>A | ||
| ENST00000613192.1:c.348C>A | ENSP00000483275.1:p.Pro116= | |
| ENST00000613374.4:c.768C>A | ENSP00000484464.1:p.Pro256= | |
| ENST00000613706.4:c.825C>A | ENSP00000484976.1:p.Pro275= | |
| ENST00000617164.4:c.2121C>A | ENSP00000480470.1:p.Pro707= | |
| ENST00000619009.4:c.639C>A | ENSP00000482293.1:p.Pro213= | |
| ENST00000620057.4:c.*844C>A | ENSP00000481988.1:n.*844C>A | |
| NM_000465.3:c.2178C>A | NP_000456.2:p.Pro726= | |
| NM_001282543.1:c.2121C>A | NP_001269472.1:p.Pro707= | |
| NM_001282545.1:c.825C>A | NP_001269474.1:p.Pro275= | |
| NM_001282548.1:c.768C>A | NP_001269477.1:p.Pro256= | |
| NM_001282549.1:c.639C>A | NP_001269478.1:p.Pro213= | |
| NR_104212.1:n.2171C>A | ||
| NR_104215.1:n.2114C>A | ||
| NR_104216.1:n.1370C>A | ||
| XM_011511567.1:c.2124C>A | XP_011509869.1:p.Pro708= | |
| XM_017004613.1:c.2277C>A | XP_016860102.1:p.Pro759= | |
| XR_002959322.1:n.2544C>A | ||
| NM_000465.4:c.2178C>A MANE Select | NP_000456.2:p.Pro726= | |
| NM_001282543.2:c.2121C>A | NP_001269472.1:p.Pro707= | |
| NM_001282545.2:c.825C>A | NP_001269474.1:p.Pro275= | |
| NM_001282548.2:c.768C>A | NP_001269477.1:p.Pro256= | |
| NM_001282549.2:c.639C>A | NP_001269478.1:p.Pro213= | |
| NR_104212.2:n.2143C>A | ||
| NR_104215.2:n.2086C>A | ||
| NR_104216.2:n.1342C>A |