Canonical Allele Identifier: CA2580066958

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1761230
• ClinVar RCV Id: RCV002416734 ; RCV003099786 ; RCV003454201

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47412561_47412562delinsAC , CM000664.2:g.47412561_47412562delinsAC	GRCh38
NC_000002.11:g.47639700_47639701delinsAC , CM000664.1:g.47639700_47639701delinsAC	GRCh37
NC_000002.10:g.47493204_47493205delinsAC	NCBI36
NG_007110.2:g.14438_14439delinsAC , LRG_218:g.14438_14439delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.792+1_792+2delinsAC	ENSP00000495641.2:n.792+1_792+2delinsAC
ENST00000233146.7:c.792+1_792+2delinsAC MANE Select	ENSP00000233146.2:n.792+1_792+2delinsAC
ENST00000543555.6:c.594+1_594+2delinsAC	ENSP00000442697.1:n.594+1_594+2delinsAC
ENST00000644092.1:c.792+1_792+2delinsAC	ENSP00000496351.1:n.792+1_792+2delinsAC
ENST00000645339.1:c.792+1_792+2delinsAC	ENSP00000496441.1:n.792+1_792+2delinsAC
ENST00000645506.1:c.792+1_792+2delinsAC	ENSP00000495455.1:n.792+1_792+2delinsAC
ENST00000646415.1:c.792+1_792+2delinsAC	ENSP00000495543.1:n.792+1_792+2delinsAC
ENST00000233146.6:c.792+1_792+2delinsAC	ENSP00000233146.2:n.792+1_792+2delinsAC
ENST00000406134.5:c.792+1_792+2delinsAC	ENSP00000384199.1:n.792+1_792+2delinsAC
ENST00000543555.5:c.594+1_594+2delinsAC	ENSP00000442697.1:n.594+1_594+2delinsAC
ENST00000610696.4:c.792+1_792+2delinsAC	ENSP00000483159.1:n.792+1_792+2delinsAC
ENST00000613514.4:c.792+1_792+2delinsAC	ENSP00000484137.1:n.792+1_792+2delinsAC
ENST00000617333.3:c.792+1_792+2delinsAC	ENSP00000482468.1:n.792+1_792+2delinsAC
ENST00000617938.4:c.792+1_792+2delinsAC	ENSP00000481158.1:n.792+1_792+2delinsAC
ENST00000621359.2:c.792+1_792+2delinsAC	ENSP00000481416.1:n.792+1_792+2delinsAC
NM_000251.2:c.792+1_792+2delinsAC , LRG_218t1:c.792+1_792+2delinsAC	NP_000242.1:n.792+1_792+2delinsAC
NM_001258281.1:c.594+1_594+2delinsAC	NP_001245210.1:n.594+1_594+2delinsAC
XM_005264332.2:c.792+1_792+2delinsAC	XP_005264389.2:n.792+1_792+2delinsAC
XM_011532867.1:c.792+1_792+2delinsAC	XP_011531169.1:n.792+1_792+2delinsAC
XR_939685.1:n.864+1_864+2delinsAC
XM_005264332.4:c.792+1_792+2delinsAC	XP_005264389.2:n.792+1_792+2delinsAC
XM_011532867.2:c.792+1_792+2delinsAC	XP_011531169.1:n.792+1_792+2delinsAC
XR_001738747.2:n.854+1_854+2delinsAC
XR_939685.2:n.854+1_854+2delinsAC
NM_000251.3:c.792+1_792+2delinsAC MANE Select	NP_000242.1:n.792+1_792+2delinsAC