Canonical Allele Identifier: CA2573134857
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1534649
ClinVar RCV Id: RCV002076862
dbSNP Id: rs2104334311

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47475013_47475017del , CM000664.2:g.47475013_47475017del GRCh38
NC_000002.11:g.47702152_47702156del , CM000664.1:g.47702152_47702156del GRCh37
NC_000002.10:g.47555656_47555660del NCBI36
NG_007110.2:g.76890_76894del , LRG_218:g.76890_76894del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1760-12_1760-8del ENSP00000495641.2:n.1760-12_1760-8del
ENST00000233146.7:c.1760-12_1760-8del MANE Select ENSP00000233146.2:n.1760-12_1760-8del
ENST00000543555.6:c.1562-12_1562-8del ENSP00000442697.1:n.1562-12_1562-8del
ENST00000644092.1:c.*60-12_*60-8del ENSP00000496351.1:n.*60-12_*60-8del
ENST00000645339.1:c.1760-12_1760-8del ENSP00000496441.1:n.1760-12_1760-8del
ENST00000645506.1:c.1760-12_1760-8del ENSP00000495455.1:n.1760-12_1760-8del
ENST00000646415.1:c.1760-12_1760-8del ENSP00000495543.1:n.1760-12_1760-8del
ENST00000233146.6:c.1760-12_1760-8del ENSP00000233146.2:n.1760-12_1760-8del
ENST00000406134.5:c.1760-12_1760-8del ENSP00000384199.1:n.1760-12_1760-8del
ENST00000543555.5:c.1562-12_1562-8del ENSP00000442697.1:n.1562-12_1562-8del
ENST00000610696.4:c.*156-12_*156-8del ENSP00000483159.1:n.*156-12_*156-8del
ENST00000613514.4:c.*300-12_*300-8del ENSP00000484137.1:n.*300-12_*300-8del
ENST00000617333.3:c.*526-12_*526-8del ENSP00000482468.1:n.*526-12_*526-8del
ENST00000617938.4:c.*732-12_*732-8del ENSP00000481158.1:n.*732-12_*732-8del
ENST00000621359.2:c.1760-12_1760-8del ENSP00000481416.1:n.1760-12_1760-8del
NM_000251.2:c.1760-12_1760-8del , LRG_218t1:c.1760-12_1760-8del NP_000242.1:n.1760-12_1760-8del
NM_001258281.1:c.1562-12_1562-8del NP_001245210.1:n.1562-12_1562-8del
XM_005264332.2:c.1760-12_1760-8del XP_005264389.2:n.1760-12_1760-8del
XM_011532867.1:c.1760-12_1760-8del XP_011531169.1:n.1760-12_1760-8del
XR_939685.1:n.1832-12_1832-8del
XM_005264332.4:c.1760-12_1760-8del XP_005264389.2:n.1760-12_1760-8del
XM_011532867.2:c.1760-12_1760-8del XP_011531169.1:n.1760-12_1760-8del
XR_001738747.2:n.1822-12_1822-8del
XR_939685.2:n.1822-12_1822-8del
NM_000251.3:c.1760-12_1760-8del MANE Select NP_000242.1:n.1760-12_1760-8del