Linked Data
ClinVar Variation Id:
1144354
dbSNP Id:
rs2104555104
gnomAD v4:
2-47806499-T-C
MyVariant Identifiers:
chr2:g.48033638T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806499T>C , CM000664.2:g.47806499T>C | GRCh38 |
| NC_000002.11:g.48033638T>C , CM000664.1:g.48033638T>C | GRCh37 |
| NC_000002.10:g.47887142T>C | NCBI36 |
| NG_007111.1:g.28353T>C , LRG_219:g.28353T>C | |
| NG_008397.1:g.104177A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3552T>C (MSH6) | ENSP00000406248.2:p.Ile1184= | |
| ENST00000420813.6:c.3552T>C (MSH6) | ENSP00000390382.2:p.Ile1184= | |
| ENST00000455383.6:c.3552T>C (MSH6) | ENSP00000397484.2:p.Ile1184= | |
| ENST00000700004.2:c.3465T>C (MSH6) | ENSP00000514752.2:p.Ile1155= | |
| ENST00000699999.1:n.4523T>C (MSH6) | ||
| ENST00000700000.1:c.2283T>C (MSH6) | ENSP00000514749.1:p.Ile761= | |
| ENST00000700002.1:c.3855T>C (MSH6) | ENSP00000514750.1:p.Ile1285= | |
| ENST00000700003.1:c.1304T>C (MSH6) | ENSP00000514751.1:n.1304T>C | |
| ENST00000700004.1:c.2622T>C (MSH6) | ENSP00000514752.1:p.Ile874= | |
| ENST00000700005.1:n.2700T>C (MSH6) | ||
| ENST00000700006.1:n.5007T>C (MSH6) | ||
| ENST00000700007.1:n.2444T>C (MSH6) | ||
| ENST00000700008.1:n.2111T>C (MSH6) | ||
| ENST00000700009.1:n.2513T>C (MSH6) | ||
| ENST00000700010.1:n.1258T>C (MSH6) | ||
| ENST00000700011.1:n.3143T>C (MSH6) | ||
| ENST00000682451.1:n.4249A>G (FBXO11) | ||
| ENST00000684712.1:n.4511A>G (FBXO11) | ||
| ENST00000234420.11:c.3849T>C (MSH6) MANE Select | ENSP00000234420.5:p.Ile1283= | |
| ENST00000540021.6:c.3459T>C (MSH6) | ENSP00000446475.1:p.Ile1153= | |
| ENST00000652107.1:c.3552T>C (MSH6) | ENSP00000498629.1:p.Ile1184= | |
| ENST00000673637.1:c.3552T>C (MSH6) | ENSP00000501310.1:p.Ile1184= | |
| ENST00000234420.9:c.3849T>C (MSH6) | ENSP00000234420.4:p.Ile1283= | |
| ENST00000405808.5:c.169+1696A>G (FBXO11) | ENSP00000385127.1:n.169+1696A>G | |
| ENST00000434234.5:c.*124+1495A>G (FBXO11) | ENSP00000402692.1:n.*124+1495A>G | |
| ENST00000445503.5:c.*3196T>C (MSH6) | ENSP00000405294.1:n.*3196T>C | |
| ENST00000538136.1:c.2943T>C (MSH6) | ENSP00000438580.1:p.Ile981= | |
| ENST00000540021.5:c.3459T>C (MSH6) | ENSP00000446475.1:p.Ile1153= | |
| ENST00000614496.4:c.2943T>C (MSH6) | ENSP00000477844.1:p.Ile981= | |
| ENST00000622629.4:c.750T>C (MSH6) | ENSP00000482078.1:p.Ile250= | |
| NM_000179.2:c.3849T>C , LRG_219t1:c.3849T>C (MSH6) | NP_000170.1:p.Ile1283= | |
| NM_001281492.1:c.3459T>C (MSH6) | NP_001268421.1:p.Ile1153= | |
| NM_001281493.1:c.2943T>C (MSH6) | NP_001268422.1:p.Ile981= | |
| NM_001281494.1:c.2943T>C (MSH6) | NP_001268423.1:p.Ile981= | |
| XM_005264271.1:c.3552T>C (MSH6) | XP_005264328.1:p.Ile1184= | |
| XM_011532798.1:c.3666T>C (MSH6) | XP_011531100.1:p.Ile1222= | |
| XM_011532799.1:c.3552T>C (MSH6) | XP_011531101.1:p.Ile1184= | |
| XM_011532800.1:c.3552T>C (MSH6) | XP_011531102.1:p.Ile1184= | |
| XM_024452819.1:c.3942T>C (MSH6) | XP_024308587.1:p.Ile1314= | |
| XM_024452820.1:c.3759T>C (MSH6) | XP_024308588.1:p.Ile1253= | |
| XM_024452821.1:c.3645T>C (MSH6) | XP_024308589.1:p.Ile1215= | |
| XM_024452822.1:c.3036T>C (MSH6) | XP_024308590.1:p.Ile1012= | |
| NM_000179.3:c.3849T>C (MSH6) MANE Select | NP_000170.1:p.Ile1283= | |
| NM_001281492.2:c.3459T>C (MSH6) | NP_001268421.1:p.Ile1153= | |
| NM_001281493.2:c.2943T>C (MSH6) | NP_001268422.1:p.Ile981= | |
| NM_001281494.2:c.2943T>C (MSH6) | NP_001268423.1:p.Ile981= |