Canonical Allele Identifier: CA2580066897
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1789638

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47478386dup , CM000664.2:g.47478386dup GRCh38
NC_000002.11:g.47705525dup , CM000664.1:g.47705525dup GRCh37
NC_000002.10:g.47559029dup NCBI36
NG_007110.2:g.80263dup , LRG_218:g.80263dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2325dup ENSP00000495641.2:p.Ala776CysfsTer11
ENST00000233146.7:c.2325dup MANE Select ENSP00000233146.2:p.Ala776CysfsTer11
ENST00000543555.6:c.2127dup ENSP00000442697.1:p.Ala710CysfsTer11
ENST00000644092.1:c.*625dup ENSP00000496351.1:n.*625dup
ENST00000644900.1:c.178dup
ENST00000645339.1:c.2325dup ENSP00000496441.1:p.Ala776CysfsTer11
ENST00000645506.1:c.2325dup ENSP00000495455.1:p.Ala776CysfsTer11
ENST00000646415.1:c.2325dup ENSP00000495543.1:p.Ala776CysfsTer11
ENST00000233146.6:c.2325dup ENSP00000233146.2:p.Ala776CysfsTer11
ENST00000406134.5:c.2325dup ENSP00000384199.1:p.Ala776CysfsTer11
ENST00000543555.5:c.2127dup ENSP00000442697.1:p.Ala710CysfsTer11
ENST00000610696.4:c.*721dup ENSP00000483159.1:n.*721dup
ENST00000613514.4:c.*865dup ENSP00000484137.1:n.*865dup
ENST00000617333.3:c.*1091dup ENSP00000482468.1:n.*1091dup
ENST00000617938.4:c.*1297dup ENSP00000481158.1:n.*1297dup
ENST00000621359.2:c.2325dup ENSP00000481416.1:p.Ala776CysfsTer?
NM_000251.2:c.2325dup , LRG_218t1:c.2325dup NP_000242.1:p.Ala776CysfsTer11
NM_001258281.1:c.2127dup NP_001245210.1:p.Ala710CysfsTer11
XM_005264332.2:c.2325dup XP_005264389.2:p.Ala776CysfsTer11
XM_011532867.1:c.2325dup XP_011531169.1:p.Ala776CysfsTer11
XR_939685.1:n.2397dup
XM_005264332.4:c.2325dup XP_005264389.2:p.Ala776CysfsTer11
XM_011532867.2:c.2325dup XP_011531169.1:p.Ala776CysfsTer11
XR_001738747.2:n.2387dup
XR_939685.2:n.2387dup
NM_000251.3:c.2325dup MANE Select NP_000242.1:p.Ala776CysfsTer11