Linked Data
ClinVar Variation Id:
42472
ClinVar RCV Id:
RCV000035325
RCV000131743
RCV000202305
RCV000410467
RCV000524203
RCV001824584
RCV002490471
RCV003492340
RCV004528168
RCV003460548
dbSNP Id:
rs267608094
gnomAD v2:
2-48033780-C-T
gnomAD v3:
2-47806641-C-T
gnomAD v4:
2-47806641-C-T
COSMIC:
COSM293555
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806641C>T , CM000664.2:g.47806641C>T | GRCh38 |
| NC_000002.11:g.48033780C>T , CM000664.1:g.48033780C>T | GRCh37 |
| NC_000002.10:g.47887284C>T | NCBI36 |
| NG_007111.1:g.28495C>T , LRG_219:g.28495C>T | |
| NG_008397.1:g.104035G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3694C>T (MSH6) | ENSP00000406248.2:p.Arg1232Ter | |
| ENST00000420813.6:c.3694C>T (MSH6) | ENSP00000390382.2:p.Arg1232Ter | |
| ENST00000455383.6:c.3694C>T (MSH6) | ENSP00000397484.2:p.Arg1232Ter | |
| ENST00000700004.2:c.3607C>T (MSH6) | ENSP00000514752.2:p.Arg1203Ter | |
| ENST00000699999.1:n.4665C>T (MSH6) | ||
| ENST00000700000.1:c.2425C>T (MSH6) | ENSP00000514749.1:p.Arg809Ter | |
| ENST00000700002.1:c.3997C>T (MSH6) | ENSP00000514750.1:p.Arg1333Ter | |
| ENST00000700003.1:c.1446C>T (MSH6) | ENSP00000514751.1:n.1446C>T | |
| ENST00000700004.1:c.2764C>T (MSH6) | ENSP00000514752.1:p.Arg922Ter | |
| ENST00000700005.1:n.2842C>T (MSH6) | ||
| ENST00000700006.1:n.5149C>T (MSH6) | ||
| ENST00000700007.1:n.2586C>T (MSH6) | ||
| ENST00000700008.1:n.2253C>T (MSH6) | ||
| ENST00000700009.1:n.2655C>T (MSH6) | ||
| ENST00000700010.1:n.1400C>T (MSH6) | ||
| ENST00000700011.1:n.3285C>T (MSH6) | ||
| ENST00000682451.1:n.4107G>A (FBXO11) | ||
| ENST00000684712.1:n.4369G>A (FBXO11) | ||
| ENST00000234420.11:c.3991C>T (MSH6) MANE Select | ENSP00000234420.5:p.Arg1331Ter | |
| ENST00000540021.6:c.3601C>T (MSH6) | ENSP00000446475.1:p.Arg1201Ter | |
| ENST00000652107.1:c.3694C>T (MSH6) | ENSP00000498629.1:p.Arg1232Ter | |
| ENST00000673637.1:c.3694C>T (MSH6) | ENSP00000501310.1:p.Arg1232Ter | |
| ENST00000234420.9:c.3991C>T (MSH6) | ENSP00000234420.4:p.Arg1331Ter | |
| ENST00000405808.5:c.169+1554G>A (FBXO11) | ENSP00000385127.1:n.169+1554G>A | |
| ENST00000434234.5:c.*124+1353G>A (FBXO11) | ENSP00000402692.1:n.*124+1353G>A | |
| ENST00000445503.5:c.*3338C>T (MSH6) | ENSP00000405294.1:n.*3338C>T | |
| ENST00000538136.1:c.3085C>T (MSH6) | ENSP00000438580.1:p.Arg1029Ter | |
| ENST00000540021.5:c.3601C>T (MSH6) | ENSP00000446475.1:p.Arg1201Ter | |
| ENST00000614496.4:c.3085C>T (MSH6) | ENSP00000477844.1:p.Arg1029Ter | |
| ENST00000622629.4:c.892C>T (MSH6) | ENSP00000482078.1:p.Arg298Ter | |
| NM_000179.2:c.3991C>T , LRG_219t1:c.3991C>T (MSH6) | NP_000170.1:p.Arg1331Ter | |
| NM_001281492.1:c.3601C>T (MSH6) | NP_001268421.1:p.Arg1201Ter | |
| NM_001281493.1:c.3085C>T (MSH6) | NP_001268422.1:p.Arg1029Ter | |
| NM_001281494.1:c.3085C>T (MSH6) | NP_001268423.1:p.Arg1029Ter | |
| XM_005264271.1:c.3694C>T (MSH6) | XP_005264328.1:p.Arg1232Ter | |
| XM_011532798.1:c.3808C>T (MSH6) | XP_011531100.1:p.Arg1270Ter | |
| XM_011532799.1:c.3694C>T (MSH6) | XP_011531101.1:p.Arg1232Ter | |
| XM_011532800.1:c.3694C>T (MSH6) | XP_011531102.1:p.Arg1232Ter | |
| XM_024452819.1:c.4084C>T (MSH6) | XP_024308587.1:p.Arg1362Ter | |
| XM_024452820.1:c.3901C>T (MSH6) | XP_024308588.1:p.Arg1301Ter | |
| XM_024452821.1:c.3787C>T (MSH6) | XP_024308589.1:p.Arg1263Ter | |
| XM_024452822.1:c.3178C>T (MSH6) | XP_024308590.1:p.Arg1060Ter | |
| NM_000179.3:c.3991C>T (MSH6) MANE Select | NP_000170.1:p.Arg1331Ter | |
| NM_001281492.2:c.3601C>T (MSH6) | NP_001268421.1:p.Arg1201Ter | |
| NM_001281493.2:c.3085C>T (MSH6) | NP_001268422.1:p.Arg1029Ter | |
| NM_001281494.2:c.3085C>T (MSH6) | NP_001268423.1:p.Arg1029Ter |