Canonical Allele Identifier: CA2580067083

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1783731
• ClinVar RCV Id: RCV002423603

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475242dup , CM000664.2:g.47475242dup	GRCh38
NC_000002.11:g.47702381dup , CM000664.1:g.47702381dup	GRCh37
NC_000002.10:g.47555885dup	NCBI36
NG_007110.2:g.77119dup , LRG_218:g.77119dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1977dup	ENSP00000495641.2:p.Asp660ArgfsTer2
ENST00000233146.7:c.1977dup MANE Select	ENSP00000233146.2:p.Asp660ArgfsTer2
ENST00000543555.6:c.1779dup	ENSP00000442697.1:p.Asp594ArgfsTer2
ENST00000644092.1:c.*277dup	ENSP00000496351.1:n.*277dup
ENST00000645339.1:c.1977dup	ENSP00000496441.1:p.Asp660ArgfsTer2
ENST00000645506.1:c.1977dup	ENSP00000495455.1:p.Asp660ArgfsTer2
ENST00000646415.1:c.1977dup	ENSP00000495543.1:p.Asp660ArgfsTer2
ENST00000233146.6:c.1977dup	ENSP00000233146.2:p.Asp660ArgfsTer2
ENST00000406134.5:c.1977dup	ENSP00000384199.1:p.Asp660ArgfsTer2
ENST00000543555.5:c.1779dup	ENSP00000442697.1:p.Asp594ArgfsTer2
ENST00000610696.4:c.*373dup	ENSP00000483159.1:n.*373dup
ENST00000613514.4:c.*517dup	ENSP00000484137.1:n.*517dup
ENST00000617333.3:c.*743dup	ENSP00000482468.1:n.*743dup
ENST00000617938.4:c.*949dup	ENSP00000481158.1:n.*949dup
ENST00000621359.2:c.1977dup	ENSP00000481416.1:p.Asp660ArgfsTer2
NM_000251.2:c.1977dup , LRG_218t1:c.1977dup	NP_000242.1:p.Asp660ArgfsTer2
NM_001258281.1:c.1779dup	NP_001245210.1:p.Asp594ArgfsTer2
XM_005264332.2:c.1977dup	XP_005264389.2:p.Asp660ArgfsTer2
XM_011532867.1:c.1977dup	XP_011531169.1:p.Asp660ArgfsTer2
XR_939685.1:n.2049dup
XM_005264332.4:c.1977dup	XP_005264389.2:p.Asp660ArgfsTer2
XM_011532867.2:c.1977dup	XP_011531169.1:p.Asp660ArgfsTer2
XR_001738747.2:n.2039dup
XR_939685.2:n.2039dup
NM_000251.3:c.1977dup MANE Select	NP_000242.1:p.Asp660ArgfsTer2