Linked Data
ClinVar Variation Id:
134851
ClinVar RCV Id:
RCV000121578
RCV000130273
RCV000409146
RCV000588001
RCV000515340
RCV001083152
RCV001356010
dbSNP Id:
rs587778531
ExAC:
2:48026185 G / A
gnomAD v2:
2-48026185-G-A
gnomAD v3:
2-47799046-G-A
gnomAD v4:
2-47799046-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47799046G>A , CM000664.2:g.47799046G>A | GRCh38 |
| NC_000002.11:g.48026185G>A , CM000664.1:g.48026185G>A | GRCh37 |
| NC_000002.10:g.47879689G>A | NCBI36 |
| NG_007111.1:g.20900G>A , LRG_219:g.20900G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.766G>A (MSH6) | ENSP00000406248.2:p.Gly256Ser | |
| ENST00000420813.6:c.766G>A (MSH6) | ENSP00000390382.2:p.Gly256Ser | |
| ENST00000455383.6:c.766G>A (MSH6) | ENSP00000397484.2:p.Gly256Ser | |
| ENST00000700004.2:c.1063G>A (MSH6) | ENSP00000514752.2:p.Gly355Ser | |
| ENST00000699999.1:n.1147G>A (MSH6) | ||
| ENST00000700000.1:c.1063G>A (MSH6) | ENSP00000514749.1:p.Gly355Ser | |
| ENST00000700002.1:c.1069G>A (MSH6) | ENSP00000514750.1:p.Gly357Ser | |
| ENST00000700003.1:c.627+2983G>A (MSH6) | ENSP00000514751.1:n.627+2983G>A | |
| ENST00000700004.1:c.220G>A (MSH6) | ENSP00000514752.1:p.Gly74Ser | |
| ENST00000234420.11:c.1063G>A (MSH6) MANE Select | ENSP00000234420.5:p.Gly355Ser | |
| ENST00000540021.6:c.673G>A (MSH6) | ENSP00000446475.1:p.Gly225Ser | |
| ENST00000652107.1:c.766G>A (MSH6) | ENSP00000498629.1:p.Gly256Ser | |
| ENST00000673637.1:c.766G>A (MSH6) | ENSP00000501310.1:p.Gly256Ser | |
| ENST00000234420.9:c.1063G>A (MSH6) | ENSP00000234420.4:p.Gly355Ser | |
| ENST00000405808.5:c.169+9149C>T (FBXO11) | ENSP00000385127.1:n.169+9149C>T | |
| ENST00000434234.5:c.*124+8948C>T (FBXO11) | ENSP00000402692.1:n.*124+8948C>T | |
| ENST00000445503.5:c.*410G>A (MSH6) | ENSP00000405294.1:n.*410G>A | |
| ENST00000538136.1:c.157G>A (MSH6) | ENSP00000438580.1:p.Gly53Ser | |
| ENST00000540021.5:c.673G>A (MSH6) | ENSP00000446475.1:p.Gly225Ser | |
| ENST00000614496.4:c.157G>A (MSH6) | ENSP00000477844.1:p.Gly53Ser | |
| ENST00000616033.4:c.1060G>A (MSH6) | ENSP00000480261.1:p.Gly354Ser | |
| ENST00000622629.4:c.-2034G>A (MSH6) | ENSP00000482078.1:n.-2034G>A | |
| NM_000179.2:c.1063G>A , LRG_219t1:c.1063G>A (MSH6) | NP_000170.1:p.Gly355Ser | |
| NM_001281492.1:c.673G>A (MSH6) | NP_001268421.1:p.Gly225Ser | |
| NM_001281493.1:c.157G>A (MSH6) | NP_001268422.1:p.Gly53Ser | |
| NM_001281494.1:c.157G>A (MSH6) | NP_001268423.1:p.Gly53Ser | |
| XM_005264271.1:c.766G>A (MSH6) | XP_005264328.1:p.Gly256Ser | |
| XM_011532798.1:c.880G>A (MSH6) | XP_011531100.1:p.Gly294Ser | |
| XM_011532799.1:c.766G>A (MSH6) | XP_011531101.1:p.Gly256Ser | |
| XM_011532800.1:c.766G>A (MSH6) | XP_011531102.1:p.Gly256Ser | |
| XM_024452819.1:c.1063G>A (MSH6) | XP_024308587.1:p.Gly355Ser | |
| XM_024452820.1:c.880G>A (MSH6) | XP_024308588.1:p.Gly294Ser | |
| XM_024452821.1:c.766G>A (MSH6) | XP_024308589.1:p.Gly256Ser | |
| XM_024452822.1:c.157G>A (MSH6) | XP_024308590.1:p.Gly53Ser | |
| NM_000179.3:c.1063G>A (MSH6) MANE Select | NP_000170.1:p.Gly355Ser | |
| NM_001281492.2:c.673G>A (MSH6) | NP_001268421.1:p.Gly225Ser | |
| NM_001281493.2:c.157G>A (MSH6) | NP_001268422.1:p.Gly53Ser | |
| NM_001281494.2:c.157G>A (MSH6) | NP_001268423.1:p.Gly53Ser |