Linked Data
ClinVar Variation Id:
216321
ClinVar RCV Id:
RCV000197162
RCV000220344
RCV000582427
RCV000761118
RCV000663025
RCV001699153
RCV003468905
dbSNP Id:
rs145959653
ExAC:
2:48025765 G / A
gnomAD v2:
2-48025765-G-A
gnomAD v3:
2-47798626-G-A
gnomAD v4:
2-47798626-G-A
PubMed:
PMID:23104009
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47798626G>A , CM000664.2:g.47798626G>A | GRCh38 |
| NC_000002.11:g.48025765G>A , CM000664.1:g.48025765G>A | GRCh37 |
| NC_000002.10:g.47879269G>A | NCBI36 |
| NG_007111.1:g.20480G>A , LRG_219:g.20480G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.346G>A (MSH6) | ENSP00000406248.2:p.Val116Ile | |
| ENST00000420813.6:c.346G>A (MSH6) | ENSP00000390382.2:p.Val116Ile | |
| ENST00000455383.6:c.346G>A (MSH6) | ENSP00000397484.2:p.Val116Ile | |
| ENST00000700004.2:c.643G>A (MSH6) | ENSP00000514752.2:p.Val215Ile | |
| ENST00000699999.1:n.727G>A (MSH6) | ||
| ENST00000700000.1:c.643G>A (MSH6) | ENSP00000514749.1:p.Val215Ile | |
| ENST00000700002.1:c.649G>A (MSH6) | ENSP00000514750.1:p.Val217Ile | |
| ENST00000700003.1:c.627+2563G>A (MSH6) | ENSP00000514751.1:n.627+2563G>A | |
| ENST00000234420.11:c.643G>A (MSH6) MANE Select | ENSP00000234420.5:p.Val215Ile | |
| ENST00000540021.6:c.253G>A (MSH6) | ENSP00000446475.1:p.Val85Ile | |
| ENST00000652107.1:c.346G>A (MSH6) | ENSP00000498629.1:p.Val116Ile | |
| ENST00000673637.1:c.346G>A (MSH6) | ENSP00000501310.1:p.Val116Ile | |
| ENST00000673922.1:n.365G>A (MSH6) | ||
| ENST00000234420.9:c.643G>A (MSH6) | ENSP00000234420.4:p.Val215Ile | |
| ENST00000405808.5:c.170-9186C>T (FBXO11) | ENSP00000385127.1:n.170-9186C>T | |
| ENST00000411819.1:c.346G>A (MSH6) | ENSP00000406248.1:p.Val116Ile | |
| ENST00000434234.5:c.*125-9186C>T (FBXO11) | ENSP00000402692.1:n.*125-9186C>T | |
| ENST00000445503.5:c.473G>A (MSH6) | ENSP00000405294.1:p.Arg158His | |
| ENST00000455383.5:c.346G>A (MSH6) | ||
| ENST00000456246.1:c.*131G>A (MSH6) | ENSP00000410570.1:n.*131G>A | |
| ENST00000538136.1:c.-264G>A (MSH6) | ENSP00000438580.1:n.-264G>A | |
| ENST00000540021.5:c.253G>A (MSH6) | ENSP00000446475.1:p.Val85Ile | |
| ENST00000614496.4:c.-264G>A (MSH6) | ENSP00000477844.1:n.-264G>A | |
| ENST00000616033.4:c.640G>A (MSH6) | ENSP00000480261.1:p.Val214Ile | |
| ENST00000622629.4:c.-2454G>A (MSH6) | ENSP00000482078.1:n.-2454G>A | |
| NM_000179.2:c.643G>A , LRG_219t1:c.643G>A (MSH6) | NP_000170.1:p.Val215Ile | |
| NM_001281492.1:c.253G>A (MSH6) | NP_001268421.1:p.Val85Ile | |
| NM_001281493.1:c.-264G>A (MSH6) | NP_001268422.1:n.-264G>A | |
| NM_001281494.1:c.-264G>A (MSH6) | NP_001268423.1:n.-264G>A | |
| XM_005264271.1:c.346G>A (MSH6) | XP_005264328.1:p.Val116Ile | |
| XM_011532798.1:c.460G>A (MSH6) | XP_011531100.1:p.Val154Ile | |
| XM_011532799.1:c.346G>A (MSH6) | XP_011531101.1:p.Val116Ile | |
| XM_011532800.1:c.346G>A (MSH6) | XP_011531102.1:p.Val116Ile | |
| XM_024452819.1:c.643G>A (MSH6) | XP_024308587.1:p.Val215Ile | |
| XM_024452820.1:c.460G>A (MSH6) | XP_024308588.1:p.Val154Ile | |
| XM_024452821.1:c.346G>A (MSH6) | XP_024308589.1:p.Val116Ile | |
| XM_024452822.1:c.-264G>A (MSH6) | XP_024308590.1:n.-264G>A | |
| NM_000179.3:c.643G>A (MSH6) MANE Select | NP_000170.1:p.Val215Ile | |
| NM_001281492.2:c.253G>A (MSH6) | NP_001268421.1:p.Val85Ile | |
| NM_001281493.2:c.-264G>A (MSH6) | NP_001268422.1:n.-264G>A | |
| NM_001281494.2:c.-264G>A (MSH6) | NP_001268423.1:n.-264G>A |