Linked Data
dbSNP Id:
rs1394797552
gnomAD v2:
2-48034057-C-G
gnomAD v3:
2-47806918-C-G
gnomAD v4:
2-47806918-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806918C>G , CM000664.2:g.47806918C>G | GRCh38 |
| NC_000002.11:g.48034057C>G , CM000664.1:g.48034057C>G | GRCh37 |
| NC_000002.10:g.47887561C>G | NCBI36 |
| NG_007111.1:g.28772C>G , LRG_219:g.28772C>G | |
| NG_008397.1:g.103758G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.*58C>G (MSH6) | ENSP00000406248.2:n.*58C>G | |
| ENST00000420813.6:c.*58C>G (MSH6) | ENSP00000390382.2:n.*58C>G | |
| ENST00000455383.6:c.*58C>G (MSH6) | ENSP00000397484.2:n.*58C>G | |
| ENST00000700004.2:c.*58C>G (MSH6) | ENSP00000514752.2:n.*58C>G | |
| ENST00000699999.1:n.4815C>G (MSH6) | ||
| ENST00000700002.1:c.*58C>G (MSH6) | ENSP00000514750.1:n.*58C>G | |
| ENST00000700004.1:c.2914C>G (MSH6) | ENSP00000514752.1:n.2914C>G | |
| ENST00000700007.1:n.2736C>G (MSH6) | ||
| ENST00000700009.1:n.2805C>G (MSH6) | ||
| ENST00000682451.1:n.3830G>C (FBXO11) | ||
| ENST00000684712.1:n.4092G>C (FBXO11) | ||
| ENST00000234420.11:c.*58C>G (MSH6) MANE Select | ENSP00000234420.5:n.*58C>G | |
| ENST00000540021.6:c.*58C>G (MSH6) | ENSP00000446475.1:n.*58C>G | |
| ENST00000652107.1:c.*58C>G (MSH6) | ENSP00000498629.1:n.*58C>G | |
| ENST00000234420.9:c.*58C>G (MSH6) | ENSP00000234420.4:n.*58C>G | |
| ENST00000405808.5:c.169+1277G>C (FBXO11) | ENSP00000385127.1:n.169+1277G>C | |
| ENST00000434234.5:c.*124+1076G>C (FBXO11) | ENSP00000402692.1:n.*124+1076G>C | |
| ENST00000445503.5:c.*3488C>G (MSH6) | ENSP00000405294.1:n.*3488C>G | |
| ENST00000465204.5:n.2992G>C (FBXO11) | ||
| ENST00000538136.1:c.*58C>G (MSH6) | ENSP00000438580.1:n.*58C>G | |
| ENST00000540021.5:c.*58C>G (MSH6) | ENSP00000446475.1:n.*58C>G | |
| ENST00000614496.4:c.*58C>G (MSH6) | ENSP00000477844.1:n.*58C>G | |
| ENST00000622629.4:c.*58C>G (MSH6) | ENSP00000482078.1:n.*58C>G | |
| NM_000179.2:c.*58C>G , LRG_219t1:c.*58C>G (MSH6) | NP_000170.1:n.*58C>G | |
| NM_001281492.1:c.*58C>G (MSH6) | NP_001268421.1:n.*58C>G | |
| NM_001281493.1:c.*58C>G (MSH6) | NP_001268422.1:n.*58C>G | |
| NM_001281494.1:c.*58C>G (MSH6) | NP_001268423.1:n.*58C>G | |
| XM_005264271.1:c.*58C>G (MSH6) | XP_005264328.1:n.*58C>G | |
| XM_011532798.1:c.*58C>G (MSH6) | XP_011531100.1:n.*58C>G | |
| XM_011532799.1:c.*58C>G (MSH6) | XP_011531101.1:n.*58C>G | |
| XM_011532800.1:c.*58C>G (MSH6) | XP_011531102.1:n.*58C>G | |
| XM_024452819.1:c.*58C>G (MSH6) | XP_024308587.1:n.*58C>G | |
| XM_024452820.1:c.*58C>G (MSH6) | XP_024308588.1:n.*58C>G | |
| XM_024452821.1:c.*58C>G (MSH6) | XP_024308589.1:n.*58C>G | |
| XM_024452822.1:c.*58C>G (MSH6) | XP_024308590.1:n.*58C>G | |
| NM_000179.3:c.*58C>G (MSH6) MANE Select | NP_000170.1:n.*58C>G | |
| NM_001281492.2:c.*58C>G (MSH6) | NP_001268421.1:n.*58C>G | |
| NM_001281493.2:c.*58C>G (MSH6) | NP_001268422.1:n.*58C>G | |
| NM_001281494.2:c.*58C>G (MSH6) | NP_001268423.1:n.*58C>G |