Linked Data
ClinVar Variation Id:
252468
dbSNP Id:
rs184131049
ExAC:
2:48033781 G / T
gnomAD v2:
2-48033781-G-T
gnomAD v3:
2-47806642-G-T
gnomAD v4:
2-47806642-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806642G>T , CM000664.2:g.47806642G>T | GRCh38 |
| NC_000002.11:g.48033781G>T , CM000664.1:g.48033781G>T | GRCh37 |
| NC_000002.10:g.47887285G>T | NCBI36 |
| NG_007111.1:g.28496G>T , LRG_219:g.28496G>T | |
| NG_008397.1:g.104034C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3695G>T (MSH6) | ENSP00000406248.2:p.Arg1232Leu | |
| ENST00000420813.6:c.3695G>T (MSH6) | ENSP00000390382.2:p.Arg1232Leu | |
| ENST00000455383.6:c.3695G>T (MSH6) | ENSP00000397484.2:p.Arg1232Leu | |
| ENST00000700004.2:c.3608G>T (MSH6) | ENSP00000514752.2:p.Arg1203Leu | |
| ENST00000699999.1:n.4666G>T (MSH6) | ||
| ENST00000700000.1:c.2426G>T (MSH6) | ENSP00000514749.1:p.Arg809Leu | |
| ENST00000700002.1:c.3998G>T (MSH6) | ENSP00000514750.1:p.Arg1333Leu | |
| ENST00000700003.1:c.1447G>T (MSH6) | ENSP00000514751.1:n.1447G>T | |
| ENST00000700004.1:c.2765G>T (MSH6) | ENSP00000514752.1:p.Arg922Leu | |
| ENST00000700005.1:n.2843G>T (MSH6) | ||
| ENST00000700006.1:n.5150G>T (MSH6) | ||
| ENST00000700007.1:n.2587G>T (MSH6) | ||
| ENST00000700008.1:n.2254G>T (MSH6) | ||
| ENST00000700009.1:n.2656G>T (MSH6) | ||
| ENST00000700010.1:n.1401G>T (MSH6) | ||
| ENST00000700011.1:n.3286G>T (MSH6) | ||
| ENST00000682451.1:n.4106C>A (FBXO11) | ||
| ENST00000684712.1:n.4368C>A (FBXO11) | ||
| ENST00000234420.11:c.3992G>T (MSH6) MANE Select | ENSP00000234420.5:p.Arg1331Leu | |
| ENST00000540021.6:c.3602G>T (MSH6) | ENSP00000446475.1:p.Arg1201Leu | |
| ENST00000652107.1:c.3695G>T (MSH6) | ENSP00000498629.1:p.Arg1232Leu | |
| ENST00000673637.1:c.3695G>T (MSH6) | ENSP00000501310.1:p.Arg1232Leu | |
| ENST00000234420.9:c.3992G>T (MSH6) | ENSP00000234420.4:p.Arg1331Leu | |
| ENST00000405808.5:c.169+1553C>A (FBXO11) | ENSP00000385127.1:n.169+1553C>A | |
| ENST00000434234.5:c.*124+1352C>A (FBXO11) | ENSP00000402692.1:n.*124+1352C>A | |
| ENST00000445503.5:c.*3339G>T (MSH6) | ENSP00000405294.1:n.*3339G>T | |
| ENST00000538136.1:c.3086G>T (MSH6) | ENSP00000438580.1:p.Arg1029Leu | |
| ENST00000540021.5:c.3602G>T (MSH6) | ENSP00000446475.1:p.Arg1201Leu | |
| ENST00000614496.4:c.3086G>T (MSH6) | ENSP00000477844.1:p.Arg1029Leu | |
| ENST00000622629.4:c.893G>T (MSH6) | ENSP00000482078.1:p.Arg298Leu | |
| NM_000179.2:c.3992G>T , LRG_219t1:c.3992G>T (MSH6) | NP_000170.1:p.Arg1331Leu | |
| NM_001281492.1:c.3602G>T (MSH6) | NP_001268421.1:p.Arg1201Leu | |
| NM_001281493.1:c.3086G>T (MSH6) | NP_001268422.1:p.Arg1029Leu | |
| NM_001281494.1:c.3086G>T (MSH6) | NP_001268423.1:p.Arg1029Leu | |
| XM_005264271.1:c.3695G>T (MSH6) | XP_005264328.1:p.Arg1232Leu | |
| XM_011532798.1:c.3809G>T (MSH6) | XP_011531100.1:p.Arg1270Leu | |
| XM_011532799.1:c.3695G>T (MSH6) | XP_011531101.1:p.Arg1232Leu | |
| XM_011532800.1:c.3695G>T (MSH6) | XP_011531102.1:p.Arg1232Leu | |
| XM_024452819.1:c.4085G>T (MSH6) | XP_024308587.1:p.Arg1362Leu | |
| XM_024452820.1:c.3902G>T (MSH6) | XP_024308588.1:p.Arg1301Leu | |
| XM_024452821.1:c.3788G>T (MSH6) | XP_024308589.1:p.Arg1263Leu | |
| XM_024452822.1:c.3179G>T (MSH6) | XP_024308590.1:p.Arg1060Leu | |
| NM_000179.3:c.3992G>T (MSH6) MANE Select | NP_000170.1:p.Arg1331Leu | |
| NM_001281492.2:c.3602G>T (MSH6) | NP_001268421.1:p.Arg1201Leu | |
| NM_001281493.2:c.3086G>T (MSH6) | NP_001268422.1:p.Arg1029Leu | |
| NM_001281494.2:c.3086G>T (MSH6) | NP_001268423.1:p.Arg1029Leu |