Linked Data
ClinVar Variation Id:
89364
ClinVar RCV Id:
RCV000074831
RCV000115412
RCV000078312
RCV000410401
RCV000524166
RCV001249970
RCV002504982
RCV003128137
RCV003149722
RCV003162477
RCV003315226
dbSNP Id:
rs267608078
ExAC:
2:48030639 A / AC
gnomAD v2:
2-48030639-A-AC
gnomAD v3:
2-47803500-A-AC
gnomAD v4:
2-47803500-A-AC
MyVariant Identifiers:
chr2:g.48030647dup (hg19)
chr2:g.48030647dupC (hg19)
chr2:g.48030640_48030641insC (hg19)
chr2:g.48030639_48030640insC (hg19)
chr2:g.47803508dupC (hg38)
chr2:g.47803501_47803502insC (hg38)
chr2:g.47803500_47803501insC (hg38)
PubMed:
PMID:9307272
PMID:9929971
PMID:15365995
PMID:15483016
PMID:15837969
PMID:16807412
PMID:17117178
PMID:17453009
PMID:18301448
PMID:18809606
PMID:20028993
PMID:20045164
PMID:20487569
PMID:20587412
PMID:21642682
PMID:21674763
PMID:23757202
PMID:24068316
PMID:24100870
PMID:24689082
PMID:25110875
PMID:25117503
PMID:25194673
PMID:25980754
PMID:26318770
PMID:26681312
PMID:26845104
PMID:28195393
PMID:28481244
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47803508dup , CM000664.2:g.47803508dup | GRCh38 |
| NC_000002.11:g.48030647dup , CM000664.1:g.48030647dup | GRCh37 |
| NC_000002.10:g.47884151dup | NCBI36 |
| NG_007111.1:g.25362dup , LRG_219:g.25362dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.2964dup (MSH6) | ENSP00000406248.2:p.Phe989LeufsTer5 | |
| ENST00000420813.6:c.2964dup (MSH6) | ENSP00000390382.2:p.Phe989LeufsTer5 | |
| ENST00000455383.6:c.2964dup (MSH6) | ENSP00000397484.2:p.Phe989LeufsTer5 | |
| ENST00000700004.2:c.3173-2110dup (MSH6) | ENSP00000514752.2:n.3173-2110dup | |
| ENST00000699999.1:n.3345dup (MSH6) | ||
| ENST00000700000.1:c.1695dup (MSH6) | ENSP00000514749.1:p.Phe566LeufsTer5 | |
| ENST00000700002.1:c.3267dup (MSH6) | ENSP00000514750.1:p.Phe1090LeufsTer5 | |
| ENST00000700003.1:c.716dup (MSH6) | ENSP00000514751.1:n.716dup | |
| ENST00000700004.1:c.2330-2110dup (MSH6) | ENSP00000514752.1:n.2330-2110dup | |
| ENST00000700005.1:n.2112dup (MSH6) | ||
| ENST00000700006.1:n.2109dup (MSH6) | ||
| ENST00000700007.1:n.1266dup (MSH6) | ||
| ENST00000700008.1:n.840dup (MSH6) | ||
| ENST00000700009.1:n.839dup (MSH6) | ||
| ENST00000700010.1:n.670dup (MSH6) | ||
| ENST00000700011.1:n.741dup (MSH6) | ||
| ENST00000234420.11:c.3261dup (MSH6) MANE Select | ENSP00000234420.5:p.Phe1088LeufsTer5 | |
| ENST00000540021.6:c.2871dup (MSH6) | ENSP00000446475.1:p.Phe958LeufsTer5 | |
| ENST00000652107.1:c.2964dup (MSH6) | ENSP00000498629.1:p.Phe989LeufsTer5 | |
| ENST00000673637.1:c.2964dup (MSH6) | ENSP00000501310.1:p.Phe989LeufsTer5 | |
| ENST00000234420.9:c.3261dup (MSH6) | ENSP00000234420.4:p.Phe1088LeufsTer5 | |
| ENST00000405808.5:c.169+4694dup (FBXO11) | ENSP00000385127.1:n.169+4694dup | |
| ENST00000434234.5:c.*124+4493dup (FBXO11) | ENSP00000402692.1:n.*124+4493dup | |
| ENST00000445503.5:c.*2608dup (MSH6) | ENSP00000405294.1:n.*2608dup | |
| ENST00000538136.1:c.2355dup (MSH6) | ENSP00000438580.1:p.Phe786LeufsTer5 | |
| ENST00000540021.5:c.2871dup (MSH6) | ENSP00000446475.1:p.Phe958LeufsTer5 | |
| ENST00000614496.4:c.2355dup (MSH6) | ENSP00000477844.1:p.Phe786LeufsTer5 | |
| ENST00000622629.4:c.165dup (MSH6) | ENSP00000482078.1:p.Phe56LeufsTer5 | |
| NM_000179.2:c.3261dup , LRG_219t1:c.3261dup (MSH6) | NP_000170.1:p.Phe1088LeufsTer5 | |
| NM_001281492.1:c.2871dup (MSH6) | NP_001268421.1:p.Phe958LeufsTer5 | |
| NM_001281493.1:c.2355dup (MSH6) | NP_001268422.1:p.Phe786LeufsTer5 | |
| NM_001281494.1:c.2355dup (MSH6) | NP_001268423.1:p.Phe786LeufsTer5 | |
| XM_005264271.1:c.2964dup (MSH6) | XP_005264328.1:p.Phe989LeufsTer5 | |
| XM_011532798.1:c.3078dup (MSH6) | XP_011531100.1:p.Phe1027LeufsTer5 | |
| XM_011532799.1:c.2964dup (MSH6) | XP_011531101.1:p.Phe989LeufsTer5 | |
| XM_011532800.1:c.2964dup (MSH6) | XP_011531102.1:p.Phe989LeufsTer5 | |
| XM_024452819.1:c.3261dup (MSH6) | XP_024308587.1:p.Phe1088LeufsTer5 | |
| XM_024452820.1:c.3078dup (MSH6) | XP_024308588.1:p.Phe1027LeufsTer5 | |
| XM_024452821.1:c.2964dup (MSH6) | XP_024308589.1:p.Phe989LeufsTer5 | |
| XM_024452822.1:c.2355dup (MSH6) | XP_024308590.1:p.Phe786LeufsTer5 | |
| NM_000179.3:c.3261dup (MSH6) MANE Select | NP_000170.1:p.Phe1088LeufsTer5 | |
| NM_001281492.2:c.2871dup (MSH6) | NP_001268421.1:p.Phe958LeufsTer5 | |
| NM_001281493.2:c.2355dup (MSH6) | NP_001268422.1:p.Phe786LeufsTer5 | |
| NM_001281494.2:c.2355dup (MSH6) | NP_001268423.1:p.Phe786LeufsTer5 |