Canonical Allele Identifier: CA1030270924

Gene: MSH2

Linked Data

• dbSNP Id: rs1667292063
• gnomAD v3: 2-47476204-ACT-A
• gnomAD v4: 2-47476204-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476207_47476208del , CM000664.2:g.47476207_47476208del	GRCh38
NC_000002.11:g.47703346_47703347del , CM000664.1:g.47703346_47703347del	GRCh37
NC_000002.10:g.47556850_47556851del	NCBI36
NG_007110.2:g.78084_78085del , LRG_218:g.78084_78085del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2006-160_2006-159del	ENSP00000495641.2:n.2006-160_2006-159del
ENST00000233146.7:c.2006-160_2006-159del MANE Select	ENSP00000233146.2:n.2006-160_2006-159del
ENST00000543555.6:c.1808-160_1808-159del	ENSP00000442697.1:n.1808-160_1808-159del
ENST00000644092.1:c.*306-160_*306-159del	ENSP00000496351.1:n.*306-160_*306-159del
ENST00000645339.1:c.2006-160_2006-159del	ENSP00000496441.1:n.2006-160_2006-159del
ENST00000645506.1:c.2006-160_2006-159del	ENSP00000495455.1:n.2006-160_2006-159del
ENST00000646415.1:c.2006-160_2006-159del	ENSP00000495543.1:n.2006-160_2006-159del
ENST00000233146.6:c.2006-160_2006-159del	ENSP00000233146.2:n.2006-160_2006-159del
ENST00000406134.5:c.2006-160_2006-159del	ENSP00000384199.1:n.2006-160_2006-159del
ENST00000543555.5:c.1808-160_1808-159del	ENSP00000442697.1:n.1808-160_1808-159del
ENST00000610696.4:c.*402-160_*402-159del	ENSP00000483159.1:n.*402-160_*402-159del
ENST00000613514.4:c.*546-160_*546-159del	ENSP00000484137.1:n.*546-160_*546-159del
ENST00000617333.3:c.*772-160_*772-159del	ENSP00000482468.1:n.*772-160_*772-159del
ENST00000617938.4:c.*978-160_*978-159del	ENSP00000481158.1:n.*978-160_*978-159del
ENST00000621359.2:c.2006-160_2006-159del	ENSP00000481416.1:n.2006-160_2006-159del
NM_000251.2:c.2006-160_2006-159del , LRG_218t1:c.2006-160_2006-159del	NP_000242.1:n.2006-160_2006-159del
NM_001258281.1:c.1808-160_1808-159del	NP_001245210.1:n.1808-160_1808-159del
XM_005264332.2:c.2006-160_2006-159del	XP_005264389.2:n.2006-160_2006-159del
XM_011532867.1:c.2006-160_2006-159del	XP_011531169.1:n.2006-160_2006-159del
XR_939685.1:n.2078-160_2078-159del
XM_005264332.4:c.2006-160_2006-159del	XP_005264389.2:n.2006-160_2006-159del
XM_011532867.2:c.2006-160_2006-159del	XP_011531169.1:n.2006-160_2006-159del
XR_001738747.2:n.2068-160_2068-159del
XR_939685.2:n.2068-160_2068-159del
NM_000251.3:c.2006-160_2006-159del MANE Select	NP_000242.1:n.2006-160_2006-159del