Linked Data
ClinVar Variation Id:
479861
dbSNP Id:
rs765247025
ExAC:
2:48032842 A / G
gnomAD v2:
2-48032842-A-G
gnomAD v3:
2-47805703-A-G
gnomAD v4:
2-47805703-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47805703A>G , CM000664.2:g.47805703A>G | GRCh38 |
| NC_000002.11:g.48032842A>G , CM000664.1:g.48032842A>G | GRCh37 |
| NC_000002.10:g.47886346A>G | NCBI36 |
| NG_007111.1:g.27557A>G , LRG_219:g.27557A>G | |
| NG_008397.1:g.104973T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3345A>G (MSH6) | ENSP00000406248.2:p.Glu1115= | |
| ENST00000420813.6:c.3345A>G (MSH6) | ENSP00000390382.2:p.Glu1115= | |
| ENST00000455383.6:c.3345A>G (MSH6) | ENSP00000397484.2:p.Glu1115= | |
| ENST00000700004.2:c.3258A>G (MSH6) | ENSP00000514752.2:p.Glu1086= | |
| ENST00000699999.1:n.4316A>G (MSH6) | ||
| ENST00000700000.1:c.2076A>G (MSH6) | ENSP00000514749.1:p.Glu692= | |
| ENST00000700002.1:c.3648A>G (MSH6) | ENSP00000514750.1:p.Glu1216= | |
| ENST00000700003.1:c.1097A>G (MSH6) | ENSP00000514751.1:n.1097A>G | |
| ENST00000700004.1:c.2415A>G (MSH6) | ENSP00000514752.1:p.Glu805= | |
| ENST00000700005.1:n.2493A>G (MSH6) | ||
| ENST00000700006.1:n.4304A>G (MSH6) | ||
| ENST00000700007.1:n.2237A>G (MSH6) | ||
| ENST00000700008.1:n.1811A>G (MSH6) | ||
| ENST00000700009.1:n.1810A>G (MSH6) | ||
| ENST00000700010.1:n.1051A>G (MSH6) | ||
| ENST00000700011.1:n.2936A>G (MSH6) | ||
| ENST00000234420.11:c.3642A>G (MSH6) MANE Select | ENSP00000234420.5:p.Glu1214= | |
| ENST00000540021.6:c.3252A>G (MSH6) | ENSP00000446475.1:p.Glu1084= | |
| ENST00000652107.1:c.3345A>G (MSH6) | ENSP00000498629.1:p.Glu1115= | |
| ENST00000673637.1:c.3345A>G (MSH6) | ENSP00000501310.1:p.Glu1115= | |
| ENST00000234420.9:c.3642A>G (MSH6) | ENSP00000234420.4:p.Glu1214= | |
| ENST00000405808.5:c.169+2492T>C (FBXO11) | ENSP00000385127.1:n.169+2492T>C | |
| ENST00000434234.5:c.*124+2291T>C (FBXO11) | ENSP00000402692.1:n.*124+2291T>C | |
| ENST00000445503.5:c.*2989A>G (MSH6) | ENSP00000405294.1:n.*2989A>G | |
| ENST00000538136.1:c.2736A>G (MSH6) | ENSP00000438580.1:p.Glu912= | |
| ENST00000540021.5:c.3252A>G (MSH6) | ENSP00000446475.1:p.Glu1084= | |
| ENST00000614496.4:c.2736A>G (MSH6) | ENSP00000477844.1:p.Glu912= | |
| ENST00000622629.4:c.546A>G (MSH6) | ENSP00000482078.1:p.Glu182= | |
| NM_000179.2:c.3642A>G , LRG_219t1:c.3642A>G (MSH6) | NP_000170.1:p.Glu1214= | |
| NM_001281492.1:c.3252A>G (MSH6) | NP_001268421.1:p.Glu1084= | |
| NM_001281493.1:c.2736A>G (MSH6) | NP_001268422.1:p.Glu912= | |
| NM_001281494.1:c.2736A>G (MSH6) | NP_001268423.1:p.Glu912= | |
| XM_005264271.1:c.3345A>G (MSH6) | XP_005264328.1:p.Glu1115= | |
| XM_011532798.1:c.3459A>G (MSH6) | XP_011531100.1:p.Glu1153= | |
| XM_011532799.1:c.3345A>G (MSH6) | XP_011531101.1:p.Glu1115= | |
| XM_011532800.1:c.3345A>G (MSH6) | XP_011531102.1:p.Glu1115= | |
| XM_024452819.1:c.3642A>G (MSH6) | XP_024308587.1:p.Glu1214= | |
| XM_024452820.1:c.3459A>G (MSH6) | XP_024308588.1:p.Glu1153= | |
| XM_024452821.1:c.3345A>G (MSH6) | XP_024308589.1:p.Glu1115= | |
| XM_024452822.1:c.2736A>G (MSH6) | XP_024308590.1:p.Glu912= | |
| NM_000179.3:c.3642A>G (MSH6) MANE Select | NP_000170.1:p.Glu1214= | |
| NM_001281492.2:c.3252A>G (MSH6) | NP_001268421.1:p.Glu1084= | |
| NM_001281493.2:c.2736A>G (MSH6) | NP_001268422.1:p.Glu912= | |
| NM_001281494.2:c.2736A>G (MSH6) | NP_001268423.1:p.Glu912= |