Canonical Allele Identifier: CA46666978

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403328_47403355delinsGCACGGCGAGGACGCGCTGCTGGCCGCC , CM000664.2:g.47403328_47403355delinsGCACGGCGAGGACGCGCTGCTGGCCGCC	GRCh38
NC_000002.11:g.47630467_47630494delinsGCACGGCGAGGACGCGCTGCTGGCCGCC , CM000664.1:g.47630467_47630494delinsGCACGGCGAGGACGCGCTGCTGGCCGCC	GRCh37
NC_000002.10:g.47483971_47483998delinsGCACGGCGAGGACGCGCTGCTGGCCGCC	NCBI36
NG_007110.2:g.5205_5232delinsGCACGGCGAGGACGCGCTGCTGGCCGCC , LRG_218:g.5205_5232delinsGCACGGCGAGGACGCGCTGCTGGCCGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.137_164delinsGCACGGCGAGGACGCGCTGCTGGCCGCC	ENSP00000495641.2:p.His46_Arg55delinsArgThrAlaArgThrArgCysTrp...
ENST00000233146.7:c.137_164delinsGCACGGCGAGGACGCGCTGCTGGCCGCC MANE Select	ENSP00000233146.2:p.His46_Arg55delinsArgThrAlaArgThrArgCysTrp...
ENST00000543555.6:c.-30-32_-30-5delinsGCACGGCGAGGACGCGCTGCTGGCCGCC	ENSP00000442697.1:n.-30-32_-30-5delinsGCACGGCGAGGACGCGCTGCTGG...
ENST00000644092.1:c.137_164delinsGCACGGCGAGGACGCGCTGCTGGCCGCC	ENSP00000496351.1:p.His46_Arg55delinsArgThrAlaArgThrArgCysTrp...
ENST00000645339.1:c.137_164delinsGCACGGCGAGGACGCGCTGCTGGCCGCC	ENSP00000496441.1:p.His46_Arg55delinsArgThrAlaArgThrArgCysTrp...
ENST00000645506.1:c.137_164delinsGCACGGCGAGGACGCGCTGCTGGCCGCC	ENSP00000495455.1:p.His46_Arg55delinsArgThrAlaArgThrArgCysTrp...
ENST00000646415.1:c.137_164delinsGCACGGCGAGGACGCGCTGCTGGCCGCC	ENSP00000495543.1:p.His46_Arg55delinsArgThrAlaArgThrArgCysTrp...
ENST00000233146.6:c.137_164delinsGCACGGCGAGGACGCGCTGCTGGCCGCC	ENSP00000233146.2:p.His46_Arg55delinsArgThrAlaArgThrArgCysTrp...
ENST00000406134.5:c.137_164delinsGCACGGCGAGGACGCGCTGCTGGCCGCC	ENSP00000384199.1:p.His46_Arg55delinsArgThrAlaArgThrArgCysTrp...
ENST00000454849.5:c.-30-32_-30-5delinsGCACGGCGAGGACGCGCTGCTGGCCGCC	ENSP00000411482.1:n.-30-32_-30-5delinsGCACGGCGAGGACGCGCTGCTGG...
ENST00000543555.5:c.-30-32_-30-5delinsGCACGGCGAGGACGCGCTGCTGGCCGCC	ENSP00000442697.1:n.-30-32_-30-5delinsGCACGGCGAGGACGCGCTGCTGG...
ENST00000610696.4:c.137_164delinsGCACGGCGAGGACGCGCTGCTGGCCGCC	ENSP00000483159.1:p.His46_Arg55delinsArgThrAlaArgThrArgCysTrp...
ENST00000613514.4:c.137_164delinsGCACGGCGAGGACGCGCTGCTGGCCGCC	ENSP00000484137.1:p.His46_Arg55delinsArgThrAlaArgThrArgCysTrp...
ENST00000617333.3:c.137_164delinsGCACGGCGAGGACGCGCTGCTGGCCGCC	ENSP00000482468.1:p.His46_Arg55delinsArgThrAlaArgThrArgCysTrp...
ENST00000617938.4:c.137_164delinsGCACGGCGAGGACGCGCTGCTGGCCGCC	ENSP00000481158.1:p.His46_Arg55delinsArgThrAlaArgThrArgCysTrp...
ENST00000621359.2:c.137_164delinsGCACGGCGAGGACGCGCTGCTGGCCGCC	ENSP00000481416.1:p.His46_Arg55delinsArgThrAlaArgThrArgCysTrp...
NM_000251.2:c.137_164delinsGCACGGCGAGGACGCGCTGCTGGCCGCC , LRG_218t1:c.137_164delinsGCACGGCGAGGACGCGCTGCTGGCCGCC	NP_000242.1:p.His46_Arg55delinsArgThrAlaArgThrArgCysTrpProPro...
NM_001258281.1:c.-30-32_-30-5delinsGCACGGCGAGGACGCGCTGCTGGCCGCC	NP_001245210.1:n.-30-32_-30-5delinsGCACGGCGAGGACGCGCTGCTGGCCG...
XM_005264332.2:c.137_164delinsGCACGGCGAGGACGCGCTGCTGGCCGCC	XP_005264389.2:p.His46_Arg55delinsArgThrAlaArgThrArgCysTrpPro...
XM_011532867.1:c.137_164delinsGCACGGCGAGGACGCGCTGCTGGCCGCC	XP_011531169.1:p.His46_Arg55delinsArgThrAlaArgThrArgCysTrpPro...
XR_939685.1:n.209_236delinsGCACGGCGAGGACGCGCTGCTGGCCGCC
XM_005264332.4:c.137_164delinsGCACGGCGAGGACGCGCTGCTGGCCGCC	XP_005264389.2:p.His46_Arg55delinsArgThrAlaArgThrArgCysTrpPro...
XM_011532867.2:c.137_164delinsGCACGGCGAGGACGCGCTGCTGGCCGCC	XP_011531169.1:p.His46_Arg55delinsArgThrAlaArgThrArgCysTrpPro...
XR_001738747.2:n.199_226delinsGCACGGCGAGGACGCGCTGCTGGCCGCC
XR_939685.2:n.199_226delinsGCACGGCGAGGACGCGCTGCTGGCCGCC
NM_000251.3:c.137_164delinsGCACGGCGAGGACGCGCTGCTGGCCGCC MANE Select	NP_000242.1:p.His46_Arg55delinsArgThrAlaArgThrArgCysTrpProPro...