Linked Data
ClinVar Variation Id:
89235
ClinVar RCV Id:
RCV003450936
dbSNP Id:
rs63751167
MyVariant Identifiers:
chr2:g.48027079_48027082dupGTGA (hg19)
chr2:g.47799940_47799943dupGTGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47799940_47799943dup , CM000664.2:g.47799940_47799943dup | GRCh38 |
| NC_000002.11:g.48027079_48027082dup , CM000664.1:g.48027079_48027082dup | GRCh37 |
| NC_000002.10:g.47880583_47880586dup | NCBI36 |
| NG_007111.1:g.21794_21797dup , LRG_219:g.21794_21797dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411819.2:c.1660_1663dup (MSH6) | ENSP00000406248.2:p.Met555SerfsTer8 | |
| ENST00000420813.6:c.1660_1663dup (MSH6) | ENSP00000390382.2:p.Met555SerfsTer8 | |
| ENST00000455383.6:c.1660_1663dup (MSH6) | ENSP00000397484.2:p.Met555SerfsTer8 | |
| ENST00000700004.2:c.1957_1960dup (MSH6) | ENSP00000514752.2:p.Met654SerfsTer8 | |
| ENST00000699999.1:n.2041_2044dup (MSH6) | ||
| ENST00000700000.1:c.1606+351_1606+354dup (MSH6) | ENSP00000514749.1:n.1606+351_1606+354dup | |
| ENST00000700002.1:c.1963_1966dup (MSH6) | ENSP00000514750.1:p.Met656SerfsTer8 | |
| ENST00000700003.1:c.628-3480_628-3477dup (MSH6) | ENSP00000514751.1:n.628-3480_628-3477dup | |
| ENST00000700004.1:c.1114_1117dup (MSH6) | ENSP00000514752.1:p.Met373SerfsTer8 | |
| ENST00000234420.11:c.1957_1960dup (MSH6) MANE Select | ENSP00000234420.5:p.Met654SerfsTer8 | |
| ENST00000540021.6:c.1567_1570dup (MSH6) | ENSP00000446475.1:p.Met524SerfsTer8 | |
| ENST00000652107.1:c.1660_1663dup (MSH6) | ENSP00000498629.1:p.Met555SerfsTer8 | |
| ENST00000673637.1:c.1660_1663dup (MSH6) | ENSP00000501310.1:p.Met555SerfsTer8 | |
| ENST00000234420.9:c.1957_1960dup (MSH6) | ENSP00000234420.4:p.Met654SerfsTer8 | |
| ENST00000405808.5:c.169+8252_169+8255dup (FBXO11) | ENSP00000385127.1:n.169+8252_169+8255dup | |
| ENST00000434234.5:c.*124+8051_*124+8054dup (FBXO11) | ENSP00000402692.1:n.*124+8051_*124+8054du... | |
| ENST00000445503.5:c.*1304_*1307dup (MSH6) | ENSP00000405294.1:n.*1304_*1307dup | |
| ENST00000538136.1:c.1051_1054dup (MSH6) | ENSP00000438580.1:p.Met352SerfsTer8 | |
| ENST00000540021.5:c.1567_1570dup (MSH6) | ENSP00000446475.1:p.Met524SerfsTer8 | |
| ENST00000614496.4:c.1051_1054dup (MSH6) | ENSP00000477844.1:p.Met352SerfsTer8 | |
| ENST00000616033.4:c.1954_1957dup (MSH6) | ENSP00000480261.1:p.Met653SerfsTer8 | |
| ENST00000622629.4:c.-1140_-1137dup (MSH6) | ENSP00000482078.1:n.-1140_-1137dup | |
| NM_000179.2:c.1957_1960dup , LRG_219t1:c.1957_1960dup (MSH6) | NP_000170.1:p.Met654SerfsTer8 | |
| NM_001281492.1:c.1567_1570dup (MSH6) | NP_001268421.1:p.Met524SerfsTer8 | |
| NM_001281493.1:c.1051_1054dup (MSH6) | NP_001268422.1:p.Met352SerfsTer8 | |
| NM_001281494.1:c.1051_1054dup (MSH6) | NP_001268423.1:p.Met352SerfsTer8 | |
| XM_005264271.1:c.1660_1663dup (MSH6) | XP_005264328.1:p.Met555SerfsTer8 | |
| XM_011532798.1:c.1774_1777dup (MSH6) | XP_011531100.1:p.Met593SerfsTer8 | |
| XM_011532799.1:c.1660_1663dup (MSH6) | XP_011531101.1:p.Met555SerfsTer8 | |
| XM_011532800.1:c.1660_1663dup (MSH6) | XP_011531102.1:p.Met555SerfsTer8 | |
| XM_024452819.1:c.1957_1960dup (MSH6) | XP_024308587.1:p.Met654SerfsTer8 | |
| XM_024452820.1:c.1774_1777dup (MSH6) | XP_024308588.1:p.Met593SerfsTer8 | |
| XM_024452821.1:c.1660_1663dup (MSH6) | XP_024308589.1:p.Met555SerfsTer8 | |
| XM_024452822.1:c.1051_1054dup (MSH6) | XP_024308590.1:p.Met352SerfsTer8 | |
| NM_000179.3:c.1957_1960dup (MSH6) MANE Select | NP_000170.1:p.Met654SerfsTer8 | |
| NM_001281492.2:c.1567_1570dup (MSH6) | NP_001268421.1:p.Met524SerfsTer8 | |
| NM_001281493.2:c.1051_1054dup (MSH6) | NP_001268422.1:p.Met352SerfsTer8 | |
| NM_001281494.2:c.1051_1054dup (MSH6) | NP_001268423.1:p.Met352SerfsTer8 |