Canonical Allele Identifier: CA2695200685

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2673283
• ClinVar RCV Id: RCV003455908

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476361_47476365delinsCTGTG , CM000664.2:g.47476361_47476365delinsCTGTG	GRCh38
NC_000002.11:g.47703500_47703504delinsCTGTG , CM000664.1:g.47703500_47703504delinsCTGTG	GRCh37
NC_000002.10:g.47557004_47557008delinsCTGTG	NCBI36
NG_007110.2:g.78238_78242delinsCTGTG , LRG_218:g.78238_78242delinsCTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2006-6_2006-2delinsCTGTG	ENSP00000495641.2:n.2006-6_2006-2delinsCTGTG
ENST00000233146.7:c.2006-6_2006-2delinsCTGTG MANE Select	ENSP00000233146.2:n.2006-6_2006-2delinsCTGTG
ENST00000543555.6:c.1808-6_1808-2delinsCTGTG	ENSP00000442697.1:n.1808-6_1808-2delinsCTGTG
ENST00000644092.1:c.*306-6_*306-2delinsCTGTG	ENSP00000496351.1:n.*306-6_*306-2delinsCTGTG
ENST00000645339.1:c.2006-6_2006-2delinsCTGTG	ENSP00000496441.1:n.2006-6_2006-2delinsCTGTG
ENST00000645506.1:c.2006-6_2006-2delinsCTGTG	ENSP00000495455.1:n.2006-6_2006-2delinsCTGTG
ENST00000646415.1:c.2006-6_2006-2delinsCTGTG	ENSP00000495543.1:n.2006-6_2006-2delinsCTGTG
ENST00000233146.6:c.2006-6_2006-2delinsCTGTG	ENSP00000233146.2:n.2006-6_2006-2delinsCTGTG
ENST00000406134.5:c.2006-6_2006-2delinsCTGTG	ENSP00000384199.1:n.2006-6_2006-2delinsCTGTG
ENST00000543555.5:c.1808-6_1808-2delinsCTGTG	ENSP00000442697.1:n.1808-6_1808-2delinsCTGTG
ENST00000610696.4:c.*402-6_*402-2delinsCTGTG	ENSP00000483159.1:n.*402-6_*402-2delinsCTGTG
ENST00000613514.4:c.*546-6_*546-2delinsCTGTG	ENSP00000484137.1:n.*546-6_*546-2delinsCTGTG
ENST00000617333.3:c.*772-6_*772-2delinsCTGTG	ENSP00000482468.1:n.*772-6_*772-2delinsCTGTG
ENST00000617938.4:c.*978-6_*978-2delinsCTGTG	ENSP00000481158.1:n.*978-6_*978-2delinsCTGTG
ENST00000621359.2:c.2006-6_2006-2delinsCTGTG	ENSP00000481416.1:n.2006-6_2006-2delinsCTGTG
NM_000251.2:c.2006-6_2006-2delinsCTGTG , LRG_218t1:c.2006-6_2006-2delinsCTGTG	NP_000242.1:n.2006-6_2006-2delinsCTGTG
NM_001258281.1:c.1808-6_1808-2delinsCTGTG	NP_001245210.1:n.1808-6_1808-2delinsCTGTG
XM_005264332.2:c.2006-6_2006-2delinsCTGTG	XP_005264389.2:n.2006-6_2006-2delinsCTGTG
XM_011532867.1:c.2006-6_2006-2delinsCTGTG	XP_011531169.1:n.2006-6_2006-2delinsCTGTG
XR_939685.1:n.2078-6_2078-2delinsCTGTG
XM_005264332.4:c.2006-6_2006-2delinsCTGTG	XP_005264389.2:n.2006-6_2006-2delinsCTGTG
XM_011532867.2:c.2006-6_2006-2delinsCTGTG	XP_011531169.1:n.2006-6_2006-2delinsCTGTG
XR_001738747.2:n.2068-6_2068-2delinsCTGTG
XR_939685.2:n.2068-6_2068-2delinsCTGTG
NM_000251.3:c.2006-6_2006-2delinsCTGTG MANE Select	NP_000242.1:n.2006-6_2006-2delinsCTGTG