Linked Data
ClinVar Variation Id:
999285
ClinVar RCV Id:
RCV001295263
dbSNP Id:
rs1670115084
gnomAD v4:
2-47806540-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806540G>A , CM000664.2:g.47806540G>A | GRCh38 |
| NC_000002.11:g.48033679G>A , CM000664.1:g.48033679G>A | GRCh37 |
| NC_000002.10:g.47887183G>A | NCBI36 |
| NG_007111.1:g.28394G>A , LRG_219:g.28394G>A | |
| NG_008397.1:g.104136C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411819.2:c.3593G>A (MSH6) | ENSP00000406248.2:p.Ser1198Asn | |
| ENST00000420813.6:c.3593G>A (MSH6) | ENSP00000390382.2:p.Ser1198Asn | |
| ENST00000455383.6:c.3593G>A (MSH6) | ENSP00000397484.2:p.Ser1198Asn | |
| ENST00000700004.2:c.3506G>A (MSH6) | ENSP00000514752.2:p.Ser1169Asn | |
| ENST00000699999.1:n.4564G>A (MSH6) | ||
| ENST00000700000.1:c.2324G>A (MSH6) | ENSP00000514749.1:p.Ser775Asn | |
| ENST00000700002.1:c.3896G>A (MSH6) | ENSP00000514750.1:p.Ser1299Asn | |
| ENST00000700003.1:c.1345G>A (MSH6) | ENSP00000514751.1:n.1345G>A | |
| ENST00000700004.1:c.2663G>A (MSH6) | ENSP00000514752.1:p.Ser888Asn | |
| ENST00000700005.1:n.2741G>A (MSH6) | ||
| ENST00000700006.1:n.5048G>A (MSH6) | ||
| ENST00000700007.1:n.2485G>A (MSH6) | ||
| ENST00000700008.1:n.2152G>A (MSH6) | ||
| ENST00000700009.1:n.2554G>A (MSH6) | ||
| ENST00000700010.1:n.1299G>A (MSH6) | ||
| ENST00000700011.1:n.3184G>A (MSH6) | ||
| ENST00000682451.1:n.4208C>T (FBXO11) | ||
| ENST00000684712.1:n.4470C>T (FBXO11) | ||
| ENST00000234420.11:c.3890G>A (MSH6) MANE Select | ENSP00000234420.5:p.Ser1297Asn | |
| ENST00000540021.6:c.3500G>A (MSH6) | ENSP00000446475.1:p.Ser1167Asn | |
| ENST00000652107.1:c.3593G>A (MSH6) | ENSP00000498629.1:p.Ser1198Asn | |
| ENST00000673637.1:c.3593G>A (MSH6) | ENSP00000501310.1:p.Ser1198Asn | |
| ENST00000234420.9:c.3890G>A (MSH6) | ENSP00000234420.4:p.Ser1297Asn | |
| ENST00000405808.5:c.169+1655C>T (FBXO11) | ENSP00000385127.1:n.169+1655C>T | |
| ENST00000434234.5:c.*124+1454C>T (FBXO11) | ENSP00000402692.1:n.*124+1454C>T | |
| ENST00000445503.5:c.*3237G>A (MSH6) | ENSP00000405294.1:n.*3237G>A | |
| ENST00000538136.1:c.2984G>A (MSH6) | ENSP00000438580.1:p.Ser995Asn | |
| ENST00000540021.5:c.3500G>A (MSH6) | ENSP00000446475.1:p.Ser1167Asn | |
| ENST00000614496.4:c.2984G>A (MSH6) | ENSP00000477844.1:p.Ser995Asn | |
| ENST00000622629.4:c.791G>A (MSH6) | ENSP00000482078.1:p.Ser264Asn | |
| NM_000179.2:c.3890G>A , LRG_219t1:c.3890G>A (MSH6) | NP_000170.1:p.Ser1297Asn | |
| NM_001281492.1:c.3500G>A (MSH6) | NP_001268421.1:p.Ser1167Asn | |
| NM_001281493.1:c.2984G>A (MSH6) | NP_001268422.1:p.Ser995Asn | |
| NM_001281494.1:c.2984G>A (MSH6) | NP_001268423.1:p.Ser995Asn | |
| XM_005264271.1:c.3593G>A (MSH6) | XP_005264328.1:p.Ser1198Asn | |
| XM_011532798.1:c.3707G>A (MSH6) | XP_011531100.1:p.Ser1236Asn | |
| XM_011532799.1:c.3593G>A (MSH6) | XP_011531101.1:p.Ser1198Asn | |
| XM_011532800.1:c.3593G>A (MSH6) | XP_011531102.1:p.Ser1198Asn | |
| XM_024452819.1:c.3983G>A (MSH6) | XP_024308587.1:p.Ser1328Asn | |
| XM_024452820.1:c.3800G>A (MSH6) | XP_024308588.1:p.Ser1267Asn | |
| XM_024452821.1:c.3686G>A (MSH6) | XP_024308589.1:p.Ser1229Asn | |
| XM_024452822.1:c.3077G>A (MSH6) | XP_024308590.1:p.Ser1026Asn | |
| NM_000179.3:c.3890G>A (MSH6) MANE Select | NP_000170.1:p.Ser1297Asn | |
| NM_001281492.2:c.3500G>A (MSH6) | NP_001268421.1:p.Ser1167Asn | |
| NM_001281493.2:c.2984G>A (MSH6) | NP_001268422.1:p.Ser995Asn | |
| NM_001281494.2:c.2984G>A (MSH6) | NP_001268423.1:p.Ser995Asn |