Linked Data
dbSNP Id:
rs1679489645
gnomAD v3:
2-27312530-T-C
gnomAD v4:
2-27312530-T-C
MyVariant Identifiers:
chr2:g.27535397T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27312530T>C , CM000664.2:g.27312530T>C | GRCh38 |
| NC_000002.11:g.27535397T>C , CM000664.1:g.27535397T>C | GRCh37 |
| NC_000002.10:g.27388901T>C | NCBI36 |
| NG_008075.1:g.15035A>G | |
| NG_033055.1:g.734A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380044.6:c.339A>G MANE Select | ENSP00000369383.1:p.Gly113= | |
| ENST00000233545.6:c.339A>G | ENSP00000233545.2:p.Gly113= | |
| ENST00000357186.10:c.171A>G | ENSP00000349713.6:p.Gly57= | |
| ENST00000380044.5:c.339A>G | ENSP00000369383.1:p.Gly113= | |
| ENST00000402310.5:c.339A>G | ENSP00000383955.1:p.Gly113= | |
| ENST00000402722.5:c.*4A>G | ENSP00000386000.1:n.*4A>G | |
| ENST00000403262.6:c.339A>G | ENSP00000385671.1:p.Gly113= | |
| ENST00000405076.5:c.187-284A>G | ENSP00000385175.1:n.187-284A>G | |
| ENST00000405983.5:c.384A>G | ENSP00000384586.1:p.Gly128= | |
| ENST00000415514.5:c.*140A>G | ENSP00000388043.1:n.*140A>G | |
| ENST00000426513.6:c.*4A>G | ENSP00000403824.2:n.*4A>G | |
| ENST00000428910.5:c.261A>G | ENSP00000405235.1:p.Gly87= | |
| ENST00000430991.5:c.209+150A>G | ||
| ENST00000475085.1:n.367A>G | ||
| ENST00000616446.1:n.316A>G | ||
| ENST00000616707.1:n.858A>G | ||
| ENST00000617583.4:n.365A>G | ||
| ENST00000621183.4:n.395A>G | ||
| ENST00000621470.4:n.355A>G | ||
| ENST00000622003.4:n.512A>G | ||
| NM_002437.4:c.339A>G | NP_002428.1:p.Gly113= | |
| XM_005264326.2:c.339A>G | XP_005264383.1:p.Gly113= | |
| XM_005264327.2:c.180A>G | XP_005264384.1:p.Gly60= | |
| XM_006712021.2:c.291A>G | XP_006712084.1:p.Gly97= | |
| XM_005264326.4:c.339A>G | XP_005264383.1:p.Gly113= | |
| XM_006712021.3:c.291A>G | XP_006712084.1:p.Gly97= | |
| XM_017004150.1:c.321A>G | XP_016859639.1:p.Gly107= | |
| XM_017004151.1:c.291A>G | XP_016859640.1:p.Gly97= | |
| XM_017004152.1:c.180A>G | XP_016859641.1:p.Gly60= | |
| XM_024452913.1:c.291A>G | XP_024308681.1:p.Gly97= | |
| NM_002437.5:c.339A>G MANE Select | NP_002428.1:p.Gly113= |