Linked Data
ClinVar Variation Id:
127588
ClinVar RCV Id:
RCV000115418
RCV000662552
RCV000587059
RCV000579665
RCV001081821
RCV001357466
RCV003997250
dbSNP Id:
rs182871847
ExAC:
2:48033337 T / A
gnomAD v2:
2-48033337-T-A
gnomAD v3:
2-47806198-T-A
gnomAD v4:
2-47806198-T-A
PubMed:
PMID:18809606
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806198T>A , CM000664.2:g.47806198T>A | GRCh38 |
| NC_000002.11:g.48033337T>A , CM000664.1:g.48033337T>A | GRCh37 |
| NC_000002.10:g.47886841T>A | NCBI36 |
| NG_007111.1:g.28052T>A , LRG_219:g.28052T>A | |
| NG_008397.1:g.104478A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3350-6T>A (MSH6) | ENSP00000406248.2:n.3350-6T>A | |
| ENST00000420813.6:c.3350-6T>A (MSH6) | ENSP00000390382.2:n.3350-6T>A | |
| ENST00000455383.6:c.3350-6T>A (MSH6) | ENSP00000397484.2:n.3350-6T>A | |
| ENST00000700004.2:c.3263-6T>A (MSH6) | ENSP00000514752.2:n.3263-6T>A | |
| ENST00000699999.1:n.4321-6T>A (MSH6) | ||
| ENST00000700000.1:c.2081-6T>A (MSH6) | ENSP00000514749.1:n.2081-6T>A | |
| ENST00000700002.1:c.3653-6T>A (MSH6) | ENSP00000514750.1:n.3653-6T>A | |
| ENST00000700003.1:c.1102-6T>A (MSH6) | ENSP00000514751.1:n.1102-6T>A | |
| ENST00000700004.1:c.2420-6T>A (MSH6) | ENSP00000514752.1:n.2420-6T>A | |
| ENST00000700005.1:n.2498-6T>A (MSH6) | ||
| ENST00000700006.1:n.4799T>A (MSH6) | ||
| ENST00000700007.1:n.2242-6T>A (MSH6) | ||
| ENST00000700008.1:n.1816-6T>A (MSH6) | ||
| ENST00000700009.1:n.2305T>A (MSH6) | ||
| ENST00000700010.1:n.1056-6T>A (MSH6) | ||
| ENST00000700011.1:n.2941-6T>A (MSH6) | ||
| ENST00000682451.1:n.4550A>T (FBXO11) | ||
| ENST00000684712.1:n.4812A>T (FBXO11) | ||
| ENST00000234420.11:c.3647-6T>A (MSH6) MANE Select | ENSP00000234420.5:n.3647-6T>A | |
| ENST00000540021.6:c.3257-6T>A (MSH6) | ENSP00000446475.1:n.3257-6T>A | |
| ENST00000652107.1:c.3350-6T>A (MSH6) | ENSP00000498629.1:n.3350-6T>A | |
| ENST00000673637.1:c.3350-6T>A (MSH6) | ENSP00000501310.1:n.3350-6T>A | |
| ENST00000234420.9:c.3647-6T>A (MSH6) | ENSP00000234420.4:n.3647-6T>A | |
| ENST00000405808.5:c.169+1997A>T (FBXO11) | ENSP00000385127.1:n.169+1997A>T | |
| ENST00000434234.5:c.*124+1796A>T (FBXO11) | ENSP00000402692.1:n.*124+1796A>T | |
| ENST00000445503.5:c.*2994-6T>A (MSH6) | ENSP00000405294.1:n.*2994-6T>A | |
| ENST00000538136.1:c.2741-6T>A (MSH6) | ENSP00000438580.1:n.2741-6T>A | |
| ENST00000540021.5:c.3257-6T>A (MSH6) | ENSP00000446475.1:n.3257-6T>A | |
| ENST00000614496.4:c.2741-6T>A (MSH6) | ENSP00000477844.1:n.2741-6T>A | |
| ENST00000622629.4:c.551-6T>A (MSH6) | ENSP00000482078.1:n.551-6T>A | |
| NM_000179.2:c.3647-6T>A , LRG_219t1:c.3647-6T>A (MSH6) | NP_000170.1:n.3647-6T>A | |
| NM_001281492.1:c.3257-6T>A (MSH6) | NP_001268421.1:n.3257-6T>A | |
| NM_001281493.1:c.2741-6T>A (MSH6) | NP_001268422.1:n.2741-6T>A | |
| NM_001281494.1:c.2741-6T>A (MSH6) | NP_001268423.1:n.2741-6T>A | |
| XM_005264271.1:c.3350-6T>A (MSH6) | XP_005264328.1:n.3350-6T>A | |
| XM_011532798.1:c.3464-6T>A (MSH6) | XP_011531100.1:n.3464-6T>A | |
| XM_011532799.1:c.3350-6T>A (MSH6) | XP_011531101.1:n.3350-6T>A | |
| XM_011532800.1:c.3350-6T>A (MSH6) | XP_011531102.1:n.3350-6T>A | |
| XM_024452819.1:c.3647-6T>A (MSH6) | XP_024308587.1:n.3647-6T>A | |
| XM_024452820.1:c.3464-6T>A (MSH6) | XP_024308588.1:n.3464-6T>A | |
| XM_024452821.1:c.3350-6T>A (MSH6) | XP_024308589.1:n.3350-6T>A | |
| XM_024452822.1:c.2741-6T>A (MSH6) | XP_024308590.1:n.2741-6T>A | |
| NM_000179.3:c.3647-6T>A (MSH6) MANE Select | NP_000170.1:n.3647-6T>A | |
| NM_001281492.2:c.3257-6T>A (MSH6) | NP_001268421.1:n.3257-6T>A | |
| NM_001281493.2:c.2741-6T>A (MSH6) | NP_001268422.1:n.2741-6T>A | |
| NM_001281494.2:c.2741-6T>A (MSH6) | NP_001268423.1:n.2741-6T>A |