Linked Data
ClinVar Variation Id:
89246
ClinVar RCV Id:
RCV000074710
RCV000162397
RCV000201965
RCV000530716
RCV001353419
RCV002222379
RCV003450938
dbSNP Id:
rs267608068
gnomAD v4:
2-47800044-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47800044T>A , CM000664.2:g.47800044T>A | GRCh38 |
| NC_000002.11:g.48027183T>A , CM000664.1:g.48027183T>A | GRCh37 |
| NC_000002.10:g.47880687T>A | NCBI36 |
| NG_007111.1:g.21898T>A , LRG_219:g.21898T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.1764T>A (MSH6) | ENSP00000406248.2:p.Cys588Ter | |
| ENST00000420813.6:c.1764T>A (MSH6) | ENSP00000390382.2:p.Cys588Ter | |
| ENST00000455383.6:c.1764T>A (MSH6) | ENSP00000397484.2:p.Cys588Ter | |
| ENST00000700004.2:c.2061T>A (MSH6) | ENSP00000514752.2:p.Cys687Ter | |
| ENST00000699999.1:n.2145T>A (MSH6) | ||
| ENST00000700000.1:c.1606+455T>A (MSH6) | ENSP00000514749.1:n.1606+455T>A | |
| ENST00000700002.1:c.2067T>A (MSH6) | ENSP00000514750.1:p.Cys689Ter | |
| ENST00000700003.1:c.628-3376T>A (MSH6) | ENSP00000514751.1:n.628-3376T>A | |
| ENST00000700004.1:c.1218T>A (MSH6) | ENSP00000514752.1:p.Cys406Ter | |
| ENST00000234420.11:c.2061T>A (MSH6) MANE Select | ENSP00000234420.5:p.Cys687Ter | |
| ENST00000540021.6:c.1671T>A (MSH6) | ENSP00000446475.1:p.Cys557Ter | |
| ENST00000652107.1:c.1764T>A (MSH6) | ENSP00000498629.1:p.Cys588Ter | |
| ENST00000673637.1:c.1764T>A (MSH6) | ENSP00000501310.1:p.Cys588Ter | |
| ENST00000234420.9:c.2061T>A (MSH6) | ENSP00000234420.4:p.Cys687Ter | |
| ENST00000405808.5:c.169+8151A>T (FBXO11) | ENSP00000385127.1:n.169+8151A>T | |
| ENST00000434234.5:c.*124+7950A>T (FBXO11) | ENSP00000402692.1:n.*124+7950A>T | |
| ENST00000445503.5:c.*1408T>A (MSH6) | ENSP00000405294.1:n.*1408T>A | |
| ENST00000538136.1:c.1155T>A (MSH6) | ENSP00000438580.1:p.Cys385Ter | |
| ENST00000540021.5:c.1671T>A (MSH6) | ENSP00000446475.1:p.Cys557Ter | |
| ENST00000614496.4:c.1155T>A (MSH6) | ENSP00000477844.1:p.Cys385Ter | |
| ENST00000616033.4:c.2058T>A (MSH6) | ENSP00000480261.1:p.Cys686Ter | |
| ENST00000622629.4:c.-1036T>A (MSH6) | ENSP00000482078.1:n.-1036T>A | |
| NM_000179.2:c.2061T>A , LRG_219t1:c.2061T>A (MSH6) | NP_000170.1:p.Cys687Ter | |
| NM_001281492.1:c.1671T>A (MSH6) | NP_001268421.1:p.Cys557Ter | |
| NM_001281493.1:c.1155T>A (MSH6) | NP_001268422.1:p.Cys385Ter | |
| NM_001281494.1:c.1155T>A (MSH6) | NP_001268423.1:p.Cys385Ter | |
| XM_005264271.1:c.1764T>A (MSH6) | XP_005264328.1:p.Cys588Ter | |
| XM_011532798.1:c.1878T>A (MSH6) | XP_011531100.1:p.Cys626Ter | |
| XM_011532799.1:c.1764T>A (MSH6) | XP_011531101.1:p.Cys588Ter | |
| XM_011532800.1:c.1764T>A (MSH6) | XP_011531102.1:p.Cys588Ter | |
| XM_024452819.1:c.2061T>A (MSH6) | XP_024308587.1:p.Cys687Ter | |
| XM_024452820.1:c.1878T>A (MSH6) | XP_024308588.1:p.Cys626Ter | |
| XM_024452821.1:c.1764T>A (MSH6) | XP_024308589.1:p.Cys588Ter | |
| XM_024452822.1:c.1155T>A (MSH6) | XP_024308590.1:p.Cys385Ter | |
| NM_000179.3:c.2061T>A (MSH6) MANE Select | NP_000170.1:p.Cys687Ter | |
| NM_001281492.2:c.1671T>A (MSH6) | NP_001268421.1:p.Cys557Ter | |
| NM_001281493.2:c.1155T>A (MSH6) | NP_001268422.1:p.Cys385Ter | |
| NM_001281494.2:c.1155T>A (MSH6) | NP_001268423.1:p.Cys385Ter |