Linked Data
ClinVar Variation Id:
127594
dbSNP Id:
rs150990541
ExAC:
2:48033613 G / A
gnomAD v2:
2-48033613-G-A
gnomAD v3:
2-47806474-G-A
gnomAD v4:
2-47806474-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806474G>A , CM000664.2:g.47806474G>A | GRCh38 |
| NC_000002.11:g.48033613G>A , CM000664.1:g.48033613G>A | GRCh37 |
| NC_000002.10:g.47887117G>A | NCBI36 |
| NG_007111.1:g.28328G>A , LRG_219:g.28328G>A | |
| NG_008397.1:g.104202C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3527G>A (MSH6) | ENSP00000406248.2:p.Cys1176Tyr | |
| ENST00000420813.6:c.3527G>A (MSH6) | ENSP00000390382.2:p.Cys1176Tyr | |
| ENST00000455383.6:c.3527G>A (MSH6) | ENSP00000397484.2:p.Cys1176Tyr | |
| ENST00000700004.2:c.3440G>A (MSH6) | ENSP00000514752.2:p.Cys1147Tyr | |
| ENST00000699999.1:n.4498G>A (MSH6) | ||
| ENST00000700000.1:c.2258G>A (MSH6) | ENSP00000514749.1:p.Cys753Tyr | |
| ENST00000700002.1:c.3830G>A (MSH6) | ENSP00000514750.1:p.Cys1277Tyr | |
| ENST00000700003.1:c.1279G>A (MSH6) | ENSP00000514751.1:n.1279G>A | |
| ENST00000700004.1:c.2597G>A (MSH6) | ENSP00000514752.1:p.Cys866Tyr | |
| ENST00000700005.1:n.2675G>A (MSH6) | ||
| ENST00000700006.1:n.4982G>A (MSH6) | ||
| ENST00000700007.1:n.2419G>A (MSH6) | ||
| ENST00000700008.1:n.2086G>A (MSH6) | ||
| ENST00000700009.1:n.2488G>A (MSH6) | ||
| ENST00000700010.1:n.1233G>A (MSH6) | ||
| ENST00000700011.1:n.3118G>A (MSH6) | ||
| ENST00000682451.1:n.4274C>T (FBXO11) | ||
| ENST00000684712.1:n.4536C>T (FBXO11) | ||
| ENST00000234420.11:c.3824G>A (MSH6) MANE Select | ENSP00000234420.5:p.Cys1275Tyr | |
| ENST00000540021.6:c.3434G>A (MSH6) | ENSP00000446475.1:p.Cys1145Tyr | |
| ENST00000652107.1:c.3527G>A (MSH6) | ENSP00000498629.1:p.Cys1176Tyr | |
| ENST00000673637.1:c.3527G>A (MSH6) | ENSP00000501310.1:p.Cys1176Tyr | |
| ENST00000234420.9:c.3824G>A (MSH6) | ENSP00000234420.4:p.Cys1275Tyr | |
| ENST00000405808.5:c.169+1721C>T (FBXO11) | ENSP00000385127.1:n.169+1721C>T | |
| ENST00000434234.5:c.*124+1520C>T (FBXO11) | ENSP00000402692.1:n.*124+1520C>T | |
| ENST00000445503.5:c.*3171G>A (MSH6) | ENSP00000405294.1:n.*3171G>A | |
| ENST00000538136.1:c.2918G>A (MSH6) | ENSP00000438580.1:p.Cys973Tyr | |
| ENST00000540021.5:c.3434G>A (MSH6) | ENSP00000446475.1:p.Cys1145Tyr | |
| ENST00000614496.4:c.2918G>A (MSH6) | ENSP00000477844.1:p.Cys973Tyr | |
| ENST00000622629.4:c.725G>A (MSH6) | ENSP00000482078.1:p.Cys242Tyr | |
| NM_000179.2:c.3824G>A , LRG_219t1:c.3824G>A (MSH6) | NP_000170.1:p.Cys1275Tyr | |
| NM_001281492.1:c.3434G>A (MSH6) | NP_001268421.1:p.Cys1145Tyr | |
| NM_001281493.1:c.2918G>A (MSH6) | NP_001268422.1:p.Cys973Tyr | |
| NM_001281494.1:c.2918G>A (MSH6) | NP_001268423.1:p.Cys973Tyr | |
| XM_005264271.1:c.3527G>A (MSH6) | XP_005264328.1:p.Cys1176Tyr | |
| XM_011532798.1:c.3641G>A (MSH6) | XP_011531100.1:p.Cys1214Tyr | |
| XM_011532799.1:c.3527G>A (MSH6) | XP_011531101.1:p.Cys1176Tyr | |
| XM_011532800.1:c.3527G>A (MSH6) | XP_011531102.1:p.Cys1176Tyr | |
| XM_024452819.1:c.3917G>A (MSH6) | XP_024308587.1:p.Cys1306Tyr | |
| XM_024452820.1:c.3734G>A (MSH6) | XP_024308588.1:p.Cys1245Tyr | |
| XM_024452821.1:c.3620G>A (MSH6) | XP_024308589.1:p.Cys1207Tyr | |
| XM_024452822.1:c.3011G>A (MSH6) | XP_024308590.1:p.Cys1004Tyr | |
| NM_000179.3:c.3824G>A (MSH6) MANE Select | NP_000170.1:p.Cys1275Tyr | |
| NM_001281492.2:c.3434G>A (MSH6) | NP_001268421.1:p.Cys1145Tyr | |
| NM_001281493.2:c.2918G>A (MSH6) | NP_001268422.1:p.Cys973Tyr | |
| NM_001281494.2:c.2918G>A (MSH6) | NP_001268423.1:p.Cys973Tyr |