Linked Data
ClinVar Variation Id:
89155
dbSNP Id:
rs2020906
gnomAD v2:
2-48034084-T-A
gnomAD v3:
2-47806945-T-A
gnomAD v4:
2-47806945-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806945T>A , CM000664.2:g.47806945T>A | GRCh38 |
| NC_000002.11:g.48034084T>A , CM000664.1:g.48034084T>A | GRCh37 |
| NC_000002.10:g.47887588T>A | NCBI36 |
| NG_007111.1:g.28799T>A , LRG_219:g.28799T>A | |
| NG_008397.1:g.103731A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.*85T>A (MSH6) | ENSP00000406248.2:n.*85T>A | |
| ENST00000420813.6:c.*85T>A (MSH6) | ENSP00000390382.2:n.*85T>A | |
| ENST00000455383.6:c.*85T>A (MSH6) | ENSP00000397484.2:n.*85T>A | |
| ENST00000681999.1:n.8312A>T (FBXO11) | ||
| ENST00000682451.1:n.3803A>T (FBXO11) | ||
| ENST00000683894.1:c.*1173A>T (FBXO11) | ENSP00000507789.1:n.*1173A>T | |
| ENST00000684712.1:n.4065A>T (FBXO11) | ||
| ENST00000234420.11:c.*85T>A (MSH6) MANE Select | ENSP00000234420.5:n.*85T>A | |
| ENST00000403359.8:c.*1173A>T (FBXO11) MANE Select | ENSP00000384823.4:n.*1173A>T | |
| ENST00000540021.6:c.*85T>A (MSH6) | ENSP00000446475.1:n.*85T>A | |
| ENST00000652107.1:c.*85T>A (MSH6) | ENSP00000498629.1:n.*85T>A | |
| ENST00000234420.9:c.*85T>A (MSH6) | ENSP00000234420.4:n.*85T>A | |
| ENST00000402508.5:c.*1173A>T (FBXO11) | ENSP00000385398.1:n.*1173A>T | |
| ENST00000403359.7:c.*1173A>T (FBXO11) | ENSP00000384823.3:n.*1173A>T | |
| ENST00000405808.5:c.169+1250A>T (FBXO11) | ENSP00000385127.1:n.169+1250A>T | |
| ENST00000434234.5:c.*124+1049A>T (FBXO11) | ENSP00000402692.1:n.*124+1049A>T | |
| ENST00000445503.5:c.*3515T>A (MSH6) | ENSP00000405294.1:n.*3515T>A | |
| ENST00000465204.5:n.2965A>T (FBXO11) | ||
| ENST00000538136.1:c.*85T>A (MSH6) | ENSP00000438580.1:n.*85T>A | |
| ENST00000540021.5:c.*85T>A (MSH6) | ENSP00000446475.1:n.*85T>A | |
| ENST00000614496.4:c.*85T>A (MSH6) | ENSP00000477844.1:n.*85T>A | |
| ENST00000622629.4:c.*85T>A (MSH6) | ENSP00000482078.1:n.*85T>A | |
| NM_000179.2:c.*85T>A , LRG_219t1:c.*85T>A (MSH6) | NP_000170.1:n.*85T>A | |
| NM_001190274.1:c.*1173A>T (FBXO11) | NP_001177203.1:n.*1173A>T | |
| NM_001281492.1:c.*85T>A (MSH6) | NP_001268421.1:n.*85T>A | |
| NM_001281493.1:c.*85T>A (MSH6) | NP_001268422.1:n.*85T>A | |
| NM_001281494.1:c.*85T>A (MSH6) | NP_001268423.1:n.*85T>A | |
| NM_025133.4:c.*1173A>T (FBXO11) | NP_079409.3:n.*1173A>T | |
| XM_005264271.1:c.*85T>A (MSH6) | XP_005264328.1:n.*85T>A | |
| XM_005264572.3:c.*1173A>T (FBXO11) | XP_005264629.1:n.*1173A>T | |
| XM_005264573.3:c.*1173A>T (FBXO11) | XP_005264630.1:n.*1173A>T | |
| XM_011532798.1:c.*85T>A (MSH6) | XP_011531100.1:n.*85T>A | |
| XM_011532799.1:c.*85T>A (MSH6) | XP_011531101.1:n.*85T>A | |
| XM_011532800.1:c.*85T>A (MSH6) | XP_011531102.1:n.*85T>A | |
| XM_005264572.5:c.*1173A>T (FBXO11) | XP_005264629.1:n.*1173A>T | |
| XM_005264573.5:c.*1173A>T (FBXO11) | XP_005264630.1:n.*1173A>T | |
| XM_017005015.1:c.*1173A>T (FBXO11) | XP_016860504.1:n.*1173A>T | |
| XM_017005016.2:c.*1173A>T (FBXO11) | XP_016860505.1:n.*1173A>T | |
| XM_017005017.1:c.*1173A>T (FBXO11) | XP_016860506.1:n.*1173A>T | |
| XM_024452819.1:c.*85T>A (MSH6) | XP_024308587.1:n.*85T>A | |
| XM_024452820.1:c.*85T>A (MSH6) | XP_024308588.1:n.*85T>A | |
| XM_024452821.1:c.*85T>A (MSH6) | XP_024308589.1:n.*85T>A | |
| XM_024452822.1:c.*85T>A (MSH6) | XP_024308590.1:n.*85T>A | |
| NM_000179.3:c.*85T>A (MSH6) MANE Select | NP_000170.1:n.*85T>A | |
| NM_001190274.2:c.*1173A>T (FBXO11) MANE Select | NP_001177203.1:n.*1173A>T | |
| NM_001374325.1:c.*1173A>T (FBXO11) | NP_001361254.1:n.*1173A>T | |
| NM_001281492.2:c.*85T>A (MSH6) | NP_001268421.1:n.*85T>A | |
| NM_001281493.2:c.*85T>A (MSH6) | NP_001268422.1:n.*85T>A | |
| NM_001281494.2:c.*85T>A (MSH6) | NP_001268423.1:n.*85T>A |