Linked Data
ClinVar Variation Id:
1467856
ClinVar RCV Id:
RCV001968707
dbSNP Id:
rs2149879132
MyVariant Identifiers:
chr2:g.145161483C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144403916C>T , CM000664.2:g.144403916C>T | GRCh38 |
| NC_000002.11:g.145161483C>T , CM000664.1:g.145161483C>T | GRCh37 |
| NC_000002.10:g.144877953C>T | NCBI36 |
| NG_016431.1:g.121476G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*656G>A | ENSP00000508434.1:n.*656G>A | |
| ENST00000440875.6:c.30G>A | ENSP00000475553.3:p.Gln10= | |
| ENST00000627532.3:c.807G>A MANE Select | ENSP00000487174.1:p.Gln269= | |
| ENST00000636026.2:c.807G>A | ENSP00000490776.1:p.Gln269= | |
| ENST00000636179.1:n.776G>A | ||
| ENST00000636413.1:c.471G>A | ENSP00000490508.1:p.Gln157= | |
| ENST00000636471.1:c.807G>A | ENSP00000490317.1:p.Gln269= | |
| ENST00000636732.2:c.*524G>A | ENSP00000490175.1:n.*524G>A | |
| ENST00000636820.1:n.907G>A | ||
| ENST00000637045.1:c.471G>A | ENSP00000490141.1:p.Gln157= | |
| ENST00000637267.2:c.807G>A | ENSP00000490293.2:p.Gln269= | |
| ENST00000637304.1:c.471G>A | ENSP00000490872.1:p.Gln157= | |
| ENST00000638007.1:c.471G>A | ENSP00000490723.1:p.Gln157= | |
| ENST00000638087.1:c.471G>A | ENSP00000490673.1:p.Gln157= | |
| ENST00000638128.1:c.30G>A | ENSP00000490934.1:p.Gln10= | |
| ENST00000675069.1:c.-133-5066G>A | ENSP00000502467.1:n.-133-5066G>A | |
| ENST00000303660.8:c.804G>A | ENSP00000302501.4:p.Gln268= | |
| ENST00000392861.6:c.891G>A | ENSP00000376601.3:p.Gln297= | |
| ENST00000409487.7:c.807G>A | ENSP00000386854.2:p.Gln269= | |
| ENST00000419938.5:c.546G>A | ENSP00000394777.2:p.Gln182= | |
| ENST00000427902.5:c.894G>A | ENSP00000395496.2:p.Gln298= | |
| ENST00000440875.5:c.792G>A | ENSP00000475553.2:p.Gln264= | |
| ENST00000539609.7:c.735G>A | ENSP00000443792.2:p.Gln245= | |
| ENST00000558170.6:c.807G>A | ENSP00000454157.1:p.Gln269= | |
| ENST00000627532.2:c.807G>A | ENSP00000487174.1:p.Gln269= | |
| NM_001171653.1:c.735G>A | NP_001165124.1:p.Gln245= | |
| NM_014795.3:c.807G>A | NP_055610.1:p.Gln269= | |
| XM_006712881.2:c.807G>A | XP_006712944.1:p.Gln269= | |
| XM_006712882.2:c.807G>A | XP_006712945.1:p.Gln269= | |
| XM_011512231.1:c.798G>A | XP_011510533.1:p.Gln266= | |
| XM_011512232.1:c.786G>A | XP_011510534.1:p.Gln262= | |
| NM_014795.4:c.807G>A MANE Select | NP_055610.1:p.Gln269= | |
| NM_001171653.2:c.735G>A | NP_001165124.1:p.Gln245= |