MyVariant.info:
GRCh38
chr2:g.47805694dupT
GRCh38
chr2:g.47805692_47805693insT
GRCh37
chr2:g.48032833dupT
GRCh37
chr2:g.48032831_48032832insT
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000876 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47805694dup , CM000664.2:g.47805694dup | GRCh38 |
| NC_000002.11:g.48032833dup , CM000664.1:g.48032833dup | GRCh37 |
| NC_000002.10:g.47886337dup | NCBI36 |
| NG_007111.1:g.27548dup , LRG_219:g.27548dup | |
| NG_008397.1:g.104983dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3336dup (MSH6) | ENSP00000406248.2:p.Val1113CysfsTer3 | |
| ENST00000420813.6:c.3336dup (MSH6) | ENSP00000390382.2:p.Val1113CysfsTer3 | |
| ENST00000455383.6:c.3336dup (MSH6) | ENSP00000397484.2:p.Val1113CysfsTer3 | |
| ENST00000700004.2:c.3249dup (MSH6) | ENSP00000514752.2:p.Val1084CysfsTer3 | |
| ENST00000699999.1:n.4307dup (MSH6) | ||
| ENST00000700000.1:c.2067dup (MSH6) | ENSP00000514749.1:p.Val690CysfsTer3 | |
| ENST00000700002.1:c.3639dup (MSH6) | ENSP00000514750.1:p.Val1214CysfsTer3 | |
| ENST00000700003.1:c.1088dup (MSH6) | ENSP00000514751.1:n.1088dup | |
| ENST00000700004.1:c.2406dup (MSH6) | ENSP00000514752.1:p.Val803CysfsTer3 | |
| ENST00000700005.1:n.2484dup (MSH6) | ||
| ENST00000700006.1:n.4295dup (MSH6) | ||
| ENST00000700007.1:n.2228dup (MSH6) | ||
| ENST00000700008.1:n.1802dup (MSH6) | ||
| ENST00000700009.1:n.1801dup (MSH6) | ||
| ENST00000700010.1:n.1042dup (MSH6) | ||
| ENST00000700011.1:n.2927dup (MSH6) | ||
| ENST00000234420.11:c.3633dup (MSH6) MANE Select | ENSP00000234420.5:p.Val1212CysfsTer3 | |
| ENST00000540021.6:c.3243dup (MSH6) | ENSP00000446475.1:p.Val1082CysfsTer3 | |
| ENST00000652107.1:c.3336dup (MSH6) | ENSP00000498629.1:p.Val1113CysfsTer3 | |
| ENST00000673637.1:c.3336dup (MSH6) | ENSP00000501310.1:p.Val1113CysfsTer3 | |
| ENST00000234420.9:c.3633dup (MSH6) | ENSP00000234420.4:p.Val1212CysfsTer3 | |
| ENST00000405808.5:c.169+2502dup (FBXO11) | ENSP00000385127.1:n.169+2502dup | |
| ENST00000434234.5:c.*124+2301dup (FBXO11) | ENSP00000402692.1:n.*124+2301dup | |
| ENST00000445503.5:c.*2980dup (MSH6) | ENSP00000405294.1:n.*2980dup | |
| ENST00000538136.1:c.2727dup (MSH6) | ENSP00000438580.1:p.Val910CysfsTer3 | |
| ENST00000540021.5:c.3243dup (MSH6) | ENSP00000446475.1:p.Val1082CysfsTer3 | |
| ENST00000614496.4:c.2727dup (MSH6) | ENSP00000477844.1:p.Val910CysfsTer3 | |
| ENST00000622629.4:c.537dup (MSH6) | ENSP00000482078.1:p.Val180CysfsTer3 | |
| NM_000179.2:c.3633dup , LRG_219t1:c.3633dup (MSH6) | NP_000170.1:p.Val1212CysfsTer3 | |
| NM_001281492.1:c.3243dup (MSH6) | NP_001268421.1:p.Val1082CysfsTer3 | |
| NM_001281493.1:c.2727dup (MSH6) | NP_001268422.1:p.Val910CysfsTer3 | |
| NM_001281494.1:c.2727dup (MSH6) | NP_001268423.1:p.Val910CysfsTer3 | |
| XM_005264271.1:c.3336dup (MSH6) | XP_005264328.1:p.Val1113CysfsTer3 | |
| XM_011532798.1:c.3450dup (MSH6) | XP_011531100.1:p.Val1151CysfsTer3 | |
| XM_011532799.1:c.3336dup (MSH6) | XP_011531101.1:p.Val1113CysfsTer3 | |
| XM_011532800.1:c.3336dup (MSH6) | XP_011531102.1:p.Val1113CysfsTer3 | |
| XM_024452819.1:c.3633dup (MSH6) | XP_024308587.1:p.Val1212CysfsTer3 | |
| XM_024452820.1:c.3450dup (MSH6) | XP_024308588.1:p.Val1151CysfsTer3 | |
| XM_024452821.1:c.3336dup (MSH6) | XP_024308589.1:p.Val1113CysfsTer3 | |
| XM_024452822.1:c.2727dup (MSH6) | XP_024308590.1:p.Val910CysfsTer3 | |
| NM_000179.3:c.3633dup (MSH6) MANE Select | NP_000170.1:p.Val1212CysfsTer3 | |
| NM_001281492.2:c.3243dup (MSH6) | NP_001268421.1:p.Val1082CysfsTer3 | |
| NM_001281493.2:c.2727dup (MSH6) | NP_001268422.1:p.Val910CysfsTer3 | |
| NM_001281494.2:c.2727dup (MSH6) | NP_001268423.1:p.Val910CysfsTer3 |