Canonical Allele Identifier: CA10588343

Gene: MSH2

Linked Data

• ClinVar Variation Id: 265514
• ClinVar RCV Id: RCV000254768
• dbSNP Id: rs886039593
• MyVariant Identifiers: chr2:g.47698214_47698216delinsATGTTCTAATAATT (hg19) ; chr2:g.47471075_47471077delinsATGTTCTAATAATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47471075_47471077delinsATGTTCTAATAATT , CM000664.2:g.47471075_47471077delinsATGTTCTAATAATT	GRCh38
NC_000002.11:g.47698214_47698216delinsATGTTCTAATAATT , CM000664.1:g.47698214_47698216delinsATGTTCTAATAATT	GRCh37
NC_000002.10:g.47551718_47551720delinsATGTTCTAATAATT	NCBI36
NG_007110.2:g.72952_72954delinsATGTTCTAATAATT , LRG_218:g.72952_72954delinsATGTTCTAATAATT

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1759+13_1759+15delinsATGTTCTAATAATT	ENSP00000495641.2:n.1759+13_1759+15delins...
ENST00000233146.7:c.1759+13_1759+15delinsATGTTCTAATAATT MANE Select	ENSP00000233146.2:n.1759+13_1759+15delins...
ENST00000543555.6:c.1561+13_1561+15delinsATGTTCTAATAATT	ENSP00000442697.1:n.1561+13_1561+15delins...
ENST00000644092.1:c.*59+13_*59+15delinsATGTTCTAATAATT	ENSP00000496351.1:n.*59+13_*59+15delinsAT...
ENST00000645339.1:c.1759+13_1759+15delinsATGTTCTAATAATT	ENSP00000496441.1:n.1759+13_1759+15delins...
ENST00000645506.1:c.1759+13_1759+15delinsATGTTCTAATAATT	ENSP00000495455.1:n.1759+13_1759+15delins...
ENST00000646415.1:c.1759+13_1759+15delinsATGTTCTAATAATT	ENSP00000495543.1:n.1759+13_1759+15delins...
ENST00000233146.6:c.1759+13_1759+15delinsATGTTCTAATAATT	ENSP00000233146.2:n.1759+13_1759+15delins...
ENST00000406134.5:c.1759+13_1759+15delinsATGTTCTAATAATT	ENSP00000384199.1:n.1759+13_1759+15delins...
ENST00000543555.5:c.1561+13_1561+15delinsATGTTCTAATAATT	ENSP00000442697.1:n.1561+13_1561+15delins...
ENST00000610696.4:c.*155+13_*155+15delinsATGTTCTAATAATT	ENSP00000483159.1:n.*155+13_*155+15delins...
ENST00000613514.4:c.*299+13_*299+15delinsATGTTCTAATAATT	ENSP00000484137.1:n.*299+13_*299+15delins...
ENST00000617333.3:c.*525+13_*525+15delinsATGTTCTAATAATT	ENSP00000482468.1:n.*525+13_*525+15delins...
ENST00000617938.4:c.*731+13_*731+15delinsATGTTCTAATAATT	ENSP00000481158.1:n.*731+13_*731+15delins...
ENST00000621359.2:c.1759+13_1759+15delinsATGTTCTAATAATT	ENSP00000481416.1:n.1759+13_1759+15delins...
NM_000251.2:c.1759+13_1759+15delinsATGTTCTAATAATT , LRG_218t1:c.1759+13_1759+15delinsATGTTCTAATAATT	NP_000242.1:n.1759+13_1759+15delinsATGTTC...
NM_001258281.1:c.1561+13_1561+15delinsATGTTCTAATAATT	NP_001245210.1:n.1561+13_1561+15delinsATG...
XM_005264332.2:c.1759+13_1759+15delinsATGTTCTAATAATT	XP_005264389.2:n.1759+13_1759+15delinsATG...
XM_011532867.1:c.1759+13_1759+15delinsATGTTCTAATAATT	XP_011531169.1:n.1759+13_1759+15delinsATG...
XR_939685.1:n.1831+13_1831+15delinsATGTTCTAATAATT
XM_005264332.4:c.1759+13_1759+15delinsATGTTCTAATAATT	XP_005264389.2:n.1759+13_1759+15delinsATG...
XM_011532867.2:c.1759+13_1759+15delinsATGTTCTAATAATT	XP_011531169.1:n.1759+13_1759+15delinsATG...
XR_001738747.2:n.1821+13_1821+15delinsATGTTCTAATAATT
XR_939685.2:n.1821+13_1821+15delinsATGTTCTAATAATT
NM_000251.3:c.1759+13_1759+15delinsATGTTCTAATAATT MANE Select	NP_000242.1:n.1759+13_1759+15delinsATGTTC...