Linked Data
ClinVar Variation Id:
824422
dbSNP Id:
rs1572747685
MyVariant Identifiers:
chr2:g.48033741A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806602A>C , CM000664.2:g.47806602A>C | GRCh38 |
| NC_000002.11:g.48033741A>C , CM000664.1:g.48033741A>C | GRCh37 |
| NC_000002.10:g.47887245A>C | NCBI36 |
| NG_007111.1:g.28456A>C , LRG_219:g.28456A>C | |
| NG_008397.1:g.104074T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3655A>C (MSH6) | ENSP00000406248.2:p.Arg1219= | |
| ENST00000420813.6:c.3655A>C (MSH6) | ENSP00000390382.2:p.Arg1219= | |
| ENST00000455383.6:c.3655A>C (MSH6) | ENSP00000397484.2:p.Arg1219= | |
| ENST00000700004.2:c.3568A>C (MSH6) | ENSP00000514752.2:p.Arg1190= | |
| ENST00000699999.1:n.4626A>C (MSH6) | ||
| ENST00000700000.1:c.2386A>C (MSH6) | ENSP00000514749.1:p.Arg796= | |
| ENST00000700002.1:c.3958A>C (MSH6) | ENSP00000514750.1:p.Arg1320= | |
| ENST00000700003.1:c.1407A>C (MSH6) | ENSP00000514751.1:n.1407A>C | |
| ENST00000700004.1:c.2725A>C (MSH6) | ENSP00000514752.1:p.Arg909= | |
| ENST00000700005.1:n.2803A>C (MSH6) | ||
| ENST00000700006.1:n.5110A>C (MSH6) | ||
| ENST00000700007.1:n.2547A>C (MSH6) | ||
| ENST00000700008.1:n.2214A>C (MSH6) | ||
| ENST00000700009.1:n.2616A>C (MSH6) | ||
| ENST00000700010.1:n.1361A>C (MSH6) | ||
| ENST00000700011.1:n.3246A>C (MSH6) | ||
| ENST00000682451.1:n.4146T>G (FBXO11) | ||
| ENST00000684712.1:n.4408T>G (FBXO11) | ||
| ENST00000234420.11:c.3952A>C (MSH6) MANE Select | ENSP00000234420.5:p.Arg1318= | |
| ENST00000540021.6:c.3562A>C (MSH6) | ENSP00000446475.1:p.Arg1188= | |
| ENST00000652107.1:c.3655A>C (MSH6) | ENSP00000498629.1:p.Arg1219= | |
| ENST00000673637.1:c.3655A>C (MSH6) | ENSP00000501310.1:p.Arg1219= | |
| ENST00000234420.9:c.3952A>C (MSH6) | ENSP00000234420.4:p.Arg1318= | |
| ENST00000405808.5:c.169+1593T>G (FBXO11) | ENSP00000385127.1:n.169+1593T>G | |
| ENST00000434234.5:c.*124+1392T>G (FBXO11) | ENSP00000402692.1:n.*124+1392T>G | |
| ENST00000445503.5:c.*3299A>C (MSH6) | ENSP00000405294.1:n.*3299A>C | |
| ENST00000538136.1:c.3046A>C (MSH6) | ENSP00000438580.1:p.Arg1016= | |
| ENST00000540021.5:c.3562A>C (MSH6) | ENSP00000446475.1:p.Arg1188= | |
| ENST00000614496.4:c.3046A>C (MSH6) | ENSP00000477844.1:p.Arg1016= | |
| ENST00000622629.4:c.853A>C (MSH6) | ENSP00000482078.1:p.Arg285= | |
| NM_000179.2:c.3952A>C , LRG_219t1:c.3952A>C (MSH6) | NP_000170.1:p.Arg1318= | |
| NM_001281492.1:c.3562A>C (MSH6) | NP_001268421.1:p.Arg1188= | |
| NM_001281493.1:c.3046A>C (MSH6) | NP_001268422.1:p.Arg1016= | |
| NM_001281494.1:c.3046A>C (MSH6) | NP_001268423.1:p.Arg1016= | |
| XM_005264271.1:c.3655A>C (MSH6) | XP_005264328.1:p.Arg1219= | |
| XM_011532798.1:c.3769A>C (MSH6) | XP_011531100.1:p.Arg1257= | |
| XM_011532799.1:c.3655A>C (MSH6) | XP_011531101.1:p.Arg1219= | |
| XM_011532800.1:c.3655A>C (MSH6) | XP_011531102.1:p.Arg1219= | |
| XM_024452819.1:c.4045A>C (MSH6) | XP_024308587.1:p.Arg1349= | |
| XM_024452820.1:c.3862A>C (MSH6) | XP_024308588.1:p.Arg1288= | |
| XM_024452821.1:c.3748A>C (MSH6) | XP_024308589.1:p.Arg1250= | |
| XM_024452822.1:c.3139A>C (MSH6) | XP_024308590.1:p.Arg1047= | |
| NM_000179.3:c.3952A>C (MSH6) MANE Select | NP_000170.1:p.Arg1318= | |
| NM_001281492.2:c.3562A>C (MSH6) | NP_001268421.1:p.Arg1188= | |
| NM_001281493.2:c.3046A>C (MSH6) | NP_001268422.1:p.Arg1016= | |
| NM_001281494.2:c.3046A>C (MSH6) | NP_001268423.1:p.Arg1016= |