Linked Data
ClinVar Variation Id:
186492
ClinVar RCV Id:
RCV000166094
RCV000206584
RCV000524150
RCV000662779
RCV000759855
RCV001375566
RCV003462200
dbSNP Id:
rs146359682
ExAC:
2:48028072 A / C
gnomAD v2:
2-48028072-A-C
gnomAD v3:
2-47800933-A-C
gnomAD v4:
2-47800933-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47800933A>C , CM000664.2:g.47800933A>C | GRCh38 |
| NC_000002.11:g.48028072A>C , CM000664.1:g.48028072A>C | GRCh37 |
| NC_000002.10:g.47881576A>C | NCBI36 |
| NG_007111.1:g.22787A>C , LRG_219:g.22787A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.2653A>C (MSH6) | ENSP00000406248.2:p.Asn885His | |
| ENST00000420813.6:c.2653A>C (MSH6) | ENSP00000390382.2:p.Asn885His | |
| ENST00000455383.6:c.2653A>C (MSH6) | ENSP00000397484.2:p.Asn885His | |
| ENST00000700004.2:c.2950A>C (MSH6) | ENSP00000514752.2:p.Asn984His | |
| ENST00000699999.1:n.3034A>C (MSH6) | ||
| ENST00000700000.1:c.1606+1344A>C (MSH6) | ENSP00000514749.1:n.1606+1344A>C | |
| ENST00000700002.1:c.2956A>C (MSH6) | ENSP00000514750.1:p.Asn986His | |
| ENST00000700003.1:c.628-2487A>C (MSH6) | ENSP00000514751.1:n.628-2487A>C | |
| ENST00000700004.1:c.2107A>C (MSH6) | ENSP00000514752.1:p.Asn703His | |
| ENST00000234420.11:c.2950A>C (MSH6) MANE Select | ENSP00000234420.5:p.Asn984His | |
| ENST00000540021.6:c.2560A>C (MSH6) | ENSP00000446475.1:p.Asn854His | |
| ENST00000652107.1:c.2653A>C (MSH6) | ENSP00000498629.1:p.Asn885His | |
| ENST00000673637.1:c.2653A>C (MSH6) | ENSP00000501310.1:p.Asn885His | |
| ENST00000234420.9:c.2950A>C (MSH6) | ENSP00000234420.4:p.Asn984His | |
| ENST00000405808.5:c.169+7262T>G (FBXO11) | ENSP00000385127.1:n.169+7262T>G | |
| ENST00000434234.5:c.*124+7061T>G (FBXO11) | ENSP00000402692.1:n.*124+7061T>G | |
| ENST00000445503.5:c.*2297A>C (MSH6) | ENSP00000405294.1:n.*2297A>C | |
| ENST00000538136.1:c.2044A>C (MSH6) | ENSP00000438580.1:p.Asn682His | |
| ENST00000540021.5:c.2560A>C (MSH6) | ENSP00000446475.1:p.Asn854His | |
| ENST00000614496.4:c.2044A>C (MSH6) | ENSP00000477844.1:p.Asn682His | |
| ENST00000616033.4:c.2947A>C (MSH6) | ENSP00000480261.1:p.Asn983His | |
| ENST00000622629.4:c.-147A>C (MSH6) | ENSP00000482078.1:n.-147A>C | |
| NM_000179.2:c.2950A>C , LRG_219t1:c.2950A>C (MSH6) | NP_000170.1:p.Asn984His | |
| NM_001281492.1:c.2560A>C (MSH6) | NP_001268421.1:p.Asn854His | |
| NM_001281493.1:c.2044A>C (MSH6) | NP_001268422.1:p.Asn682His | |
| NM_001281494.1:c.2044A>C (MSH6) | NP_001268423.1:p.Asn682His | |
| XM_005264271.1:c.2653A>C (MSH6) | XP_005264328.1:p.Asn885His | |
| XM_011532798.1:c.2767A>C (MSH6) | XP_011531100.1:p.Asn923His | |
| XM_011532799.1:c.2653A>C (MSH6) | XP_011531101.1:p.Asn885His | |
| XM_011532800.1:c.2653A>C (MSH6) | XP_011531102.1:p.Asn885His | |
| XM_024452819.1:c.2950A>C (MSH6) | XP_024308587.1:p.Asn984His | |
| XM_024452820.1:c.2767A>C (MSH6) | XP_024308588.1:p.Asn923His | |
| XM_024452821.1:c.2653A>C (MSH6) | XP_024308589.1:p.Asn885His | |
| XM_024452822.1:c.2044A>C (MSH6) | XP_024308590.1:p.Asn682His | |
| NM_000179.3:c.2950A>C (MSH6) MANE Select | NP_000170.1:p.Asn984His | |
| NM_001281492.2:c.2560A>C (MSH6) | NP_001268421.1:p.Asn854His | |
| NM_001281493.2:c.2044A>C (MSH6) | NP_001268422.1:p.Asn682His | |
| NM_001281494.2:c.2044A>C (MSH6) | NP_001268423.1:p.Asn682His |