Canonical Allele Identifier: CA16609273
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 393458
dbSNP Id: rs1057524910

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47471041_47471044del , CM000664.2:g.47471041_47471044del GRCh38
NC_000002.11:g.47698180_47698183del , CM000664.1:g.47698180_47698183del GRCh37
NC_000002.10:g.47551684_47551687del NCBI36
NG_007110.2:g.72918_72921del , LRG_218:g.72918_72921del

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.1738_1741del ENSP00000495641.2:p.Glu580LeufsTer9
ENST00000233146.7:c.1738_1741del MANE Select ENSP00000233146.2:p.Glu580LeufsTer9
ENST00000543555.6:c.1540_1543del ENSP00000442697.1:p.Glu514LeufsTer9
ENST00000644092.1:c.*38_*41del ENSP00000496351.1:n.*38_*41del
ENST00000645339.1:c.1738_1741del ENSP00000496441.1:p.Glu580LeufsTer9
ENST00000645506.1:c.1738_1741del ENSP00000495455.1:p.Glu580LeufsTer9
ENST00000646415.1:c.1738_1741del ENSP00000495543.1:p.Glu580LeufsTer9
ENST00000233146.6:c.1738_1741del ENSP00000233146.2:p.Glu580LeufsTer9
ENST00000406134.5:c.1738_1741del ENSP00000384199.1:p.Glu580LeufsTer9
ENST00000543555.5:c.1540_1543del ENSP00000442697.1:p.Glu514LeufsTer9
ENST00000610696.4:c.*134_*137del ENSP00000483159.1:n.*134_*137del
ENST00000613514.4:c.*278_*281del ENSP00000484137.1:n.*278_*281del
ENST00000617333.3:c.*504_*507del ENSP00000482468.1:n.*504_*507del
ENST00000617938.4:c.*710_*713del ENSP00000481158.1:n.*710_*713del
ENST00000621359.2:c.1738_1741del ENSP00000481416.1:p.Glu580LeufsTer9
NM_000251.2:c.1738_1741del , LRG_218t1:c.1738_1741del NP_000242.1:p.Glu580LeufsTer9
NM_001258281.1:c.1540_1543del NP_001245210.1:p.Glu514LeufsTer9
XM_005264332.2:c.1738_1741del XP_005264389.2:p.Glu580LeufsTer9
XM_011532867.1:c.1738_1741del XP_011531169.1:p.Glu580LeufsTer9
XR_939685.1:n.1810_1813del
XM_005264332.4:c.1738_1741del XP_005264389.2:p.Glu580LeufsTer9
XM_011532867.2:c.1738_1741del XP_011531169.1:p.Glu580LeufsTer9
XR_001738747.2:n.1800_1803del
XR_939685.2:n.1800_1803del
NM_000251.3:c.1738_1741del MANE Select NP_000242.1:p.Glu580LeufsTer9