Linked Data
ClinVar Variation Id:
89506
ClinVar RCV Id:
RCV000074974
RCV000160701
RCV000202090
RCV000491705
RCV000542786
RCV000576708
RCV001355904
dbSNP Id:
rs267608122
gnomAD v4:
2-47806651-G-A
COSMIC:
COSM4970472
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806651G>A , CM000664.2:g.47806651G>A | GRCh38 |
| NC_000002.11:g.48033790G>A , CM000664.1:g.48033790G>A | GRCh37 |
| NC_000002.10:g.47887294G>A | NCBI36 |
| NG_007111.1:g.28505G>A , LRG_219:g.28505G>A | |
| NG_008397.1:g.104025C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3704G>A (MSH6) | ENSP00000406248.2:p.Arg1235Gln | |
| ENST00000420813.6:c.3704G>A (MSH6) | ENSP00000390382.2:p.Arg1235Gln | |
| ENST00000455383.6:c.3704G>A (MSH6) | ENSP00000397484.2:p.Arg1235Gln | |
| ENST00000700004.2:c.3617G>A (MSH6) | ENSP00000514752.2:p.Arg1206Gln | |
| ENST00000699999.1:n.4675G>A (MSH6) | ||
| ENST00000700000.1:c.2435G>A (MSH6) | ENSP00000514749.1:p.Arg812Gln | |
| ENST00000700002.1:c.4007G>A (MSH6) | ENSP00000514750.1:p.Arg1336Gln | |
| ENST00000700003.1:c.1456G>A (MSH6) | ENSP00000514751.1:n.1456G>A | |
| ENST00000700004.1:c.2774G>A (MSH6) | ENSP00000514752.1:p.Arg925Gln | |
| ENST00000700005.1:n.2852G>A (MSH6) | ||
| ENST00000700006.1:n.5159G>A (MSH6) | ||
| ENST00000700007.1:n.2596G>A (MSH6) | ||
| ENST00000700008.1:n.2263G>A (MSH6) | ||
| ENST00000700009.1:n.2665G>A (MSH6) | ||
| ENST00000700010.1:n.1410G>A (MSH6) | ||
| ENST00000700011.1:n.3295G>A (MSH6) | ||
| ENST00000682451.1:n.4097C>T (FBXO11) | ||
| ENST00000684712.1:n.4359C>T (FBXO11) | ||
| ENST00000234420.11:c.4001G>A (MSH6) MANE Select | ENSP00000234420.5:p.Arg1334Gln | |
| ENST00000540021.6:c.3611G>A (MSH6) | ENSP00000446475.1:p.Arg1204Gln | |
| ENST00000652107.1:c.3704G>A (MSH6) | ENSP00000498629.1:p.Arg1235Gln | |
| ENST00000673637.1:c.3704G>A (MSH6) | ENSP00000501310.1:p.Arg1235Gln | |
| ENST00000234420.9:c.4001G>A (MSH6) | ENSP00000234420.4:p.Arg1334Gln | |
| ENST00000405808.5:c.169+1544C>T (FBXO11) | ENSP00000385127.1:n.169+1544C>T | |
| ENST00000434234.5:c.*124+1343C>T (FBXO11) | ENSP00000402692.1:n.*124+1343C>T | |
| ENST00000445503.5:c.*3348G>A (MSH6) | ENSP00000405294.1:n.*3348G>A | |
| ENST00000538136.1:c.3095G>A (MSH6) | ENSP00000438580.1:p.Arg1032Gln | |
| ENST00000540021.5:c.3611G>A (MSH6) | ENSP00000446475.1:p.Arg1204Gln | |
| ENST00000614496.4:c.3095G>A (MSH6) | ENSP00000477844.1:p.Arg1032Gln | |
| ENST00000622629.4:c.902G>A (MSH6) | ENSP00000482078.1:p.Arg301Gln | |
| NM_000179.2:c.4001G>A , LRG_219t1:c.4001G>A (MSH6) | NP_000170.1:p.Arg1334Gln | |
| NM_001281492.1:c.3611G>A (MSH6) | NP_001268421.1:p.Arg1204Gln | |
| NM_001281493.1:c.3095G>A (MSH6) | NP_001268422.1:p.Arg1032Gln | |
| NM_001281494.1:c.3095G>A (MSH6) | NP_001268423.1:p.Arg1032Gln | |
| XM_005264271.1:c.3704G>A (MSH6) | XP_005264328.1:p.Arg1235Gln | |
| XM_011532798.1:c.3818G>A (MSH6) | XP_011531100.1:p.Arg1273Gln | |
| XM_011532799.1:c.3704G>A (MSH6) | XP_011531101.1:p.Arg1235Gln | |
| XM_011532800.1:c.3704G>A (MSH6) | XP_011531102.1:p.Arg1235Gln | |
| XM_024452819.1:c.4094G>A (MSH6) | XP_024308587.1:p.Arg1365Gln | |
| XM_024452820.1:c.3911G>A (MSH6) | XP_024308588.1:p.Arg1304Gln | |
| XM_024452821.1:c.3797G>A (MSH6) | XP_024308589.1:p.Arg1266Gln | |
| XM_024452822.1:c.3188G>A (MSH6) | XP_024308590.1:p.Arg1063Gln | |
| NM_000179.3:c.4001G>A (MSH6) MANE Select | NP_000170.1:p.Arg1334Gln | |
| NM_001281492.2:c.3611G>A (MSH6) | NP_001268421.1:p.Arg1204Gln | |
| NM_001281493.2:c.3095G>A (MSH6) | NP_001268422.1:p.Arg1032Gln | |
| NM_001281494.2:c.3095G>A (MSH6) | NP_001268423.1:p.Arg1032Gln |