Linked Data
ClinVar Variation Id:
89289
ClinVar RCV Id:
RCV000129191
RCV000148652
RCV000121574
RCV000986723
RCV000585210
RCV001083699
RCV000764424
RCV001093694
RCV001353909
RCV003149719
RCV004528270
dbSNP Id:
rs34374438
ExAC:
2:48027683 A / T
gnomAD v2:
2-48027683-A-T
gnomAD v3:
2-47800544-A-T
gnomAD v4:
2-47800544-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47800544A>T , CM000664.2:g.47800544A>T | GRCh38 |
| NC_000002.11:g.48027683A>T , CM000664.1:g.48027683A>T | GRCh37 |
| NC_000002.10:g.47881187A>T | NCBI36 |
| NG_007111.1:g.22398A>T , LRG_219:g.22398A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.2264A>T (MSH6) | ENSP00000406248.2:p.Lys755Met | |
| ENST00000420813.6:c.2264A>T (MSH6) | ENSP00000390382.2:p.Lys755Met | |
| ENST00000455383.6:c.2264A>T (MSH6) | ENSP00000397484.2:p.Lys755Met | |
| ENST00000700004.2:c.2561A>T (MSH6) | ENSP00000514752.2:p.Lys854Met | |
| ENST00000699999.1:n.2645A>T (MSH6) | ||
| ENST00000700000.1:c.1606+955A>T (MSH6) | ENSP00000514749.1:n.1606+955A>T | |
| ENST00000700002.1:c.2567A>T (MSH6) | ENSP00000514750.1:p.Lys856Met | |
| ENST00000700003.1:c.628-2876A>T (MSH6) | ENSP00000514751.1:n.628-2876A>T | |
| ENST00000700004.1:c.1718A>T (MSH6) | ENSP00000514752.1:p.Lys573Met | |
| ENST00000234420.11:c.2561A>T (MSH6) MANE Select | ENSP00000234420.5:p.Lys854Met | |
| ENST00000540021.6:c.2171A>T (MSH6) | ENSP00000446475.1:p.Lys724Met | |
| ENST00000652107.1:c.2264A>T (MSH6) | ENSP00000498629.1:p.Lys755Met | |
| ENST00000673637.1:c.2264A>T (MSH6) | ENSP00000501310.1:p.Lys755Met | |
| ENST00000234420.9:c.2561A>T (MSH6) | ENSP00000234420.4:p.Lys854Met | |
| ENST00000405808.5:c.169+7651T>A (FBXO11) | ENSP00000385127.1:n.169+7651T>A | |
| ENST00000434234.5:c.*124+7450T>A (FBXO11) | ENSP00000402692.1:n.*124+7450T>A | |
| ENST00000445503.5:c.*1908A>T (MSH6) | ENSP00000405294.1:n.*1908A>T | |
| ENST00000538136.1:c.1655A>T (MSH6) | ENSP00000438580.1:p.Lys552Met | |
| ENST00000540021.5:c.2171A>T (MSH6) | ENSP00000446475.1:p.Lys724Met | |
| ENST00000614496.4:c.1655A>T (MSH6) | ENSP00000477844.1:p.Lys552Met | |
| ENST00000616033.4:c.2558A>T (MSH6) | ENSP00000480261.1:p.Lys853Met | |
| ENST00000622629.4:c.-536A>T (MSH6) | ENSP00000482078.1:n.-536A>T | |
| NM_000179.2:c.2561A>T , LRG_219t1:c.2561A>T (MSH6) | NP_000170.1:p.Lys854Met | |
| NM_001281492.1:c.2171A>T (MSH6) | NP_001268421.1:p.Lys724Met | |
| NM_001281493.1:c.1655A>T (MSH6) | NP_001268422.1:p.Lys552Met | |
| NM_001281494.1:c.1655A>T (MSH6) | NP_001268423.1:p.Lys552Met | |
| XM_005264271.1:c.2264A>T (MSH6) | XP_005264328.1:p.Lys755Met | |
| XM_011532798.1:c.2378A>T (MSH6) | XP_011531100.1:p.Lys793Met | |
| XM_011532799.1:c.2264A>T (MSH6) | XP_011531101.1:p.Lys755Met | |
| XM_011532800.1:c.2264A>T (MSH6) | XP_011531102.1:p.Lys755Met | |
| XM_024452819.1:c.2561A>T (MSH6) | XP_024308587.1:p.Lys854Met | |
| XM_024452820.1:c.2378A>T (MSH6) | XP_024308588.1:p.Lys793Met | |
| XM_024452821.1:c.2264A>T (MSH6) | XP_024308589.1:p.Lys755Met | |
| XM_024452822.1:c.1655A>T (MSH6) | XP_024308590.1:p.Lys552Met | |
| NM_000179.3:c.2561A>T (MSH6) MANE Select | NP_000170.1:p.Lys854Met | |
| NM_001281492.2:c.2171A>T (MSH6) | NP_001268421.1:p.Lys724Met | |
| NM_001281493.2:c.1655A>T (MSH6) | NP_001268422.1:p.Lys552Met | |
| NM_001281494.2:c.1655A>T (MSH6) | NP_001268423.1:p.Lys552Met |