Canonical Allele Identifier: CA2499216044

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1192229
• ClinVar RCV Id: RCV001553640
• dbSNP Id: rs2104172666

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47466676_47466678delinsT , CM000664.2:g.47466676_47466678delinsT	GRCh38
NC_000002.11:g.47693815_47693817delinsT , CM000664.1:g.47693815_47693817delinsT	GRCh37
NC_000002.10:g.47547319_47547321delinsT	NCBI36
NG_007110.2:g.68553_68555delinsT , LRG_218:g.68553_68555delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1529_1531delinsT	ENSP00000495641.2:p.Gln510LeufsTer2
ENST00000233146.7:c.1529_1531delinsT MANE Select	ENSP00000233146.2:p.Gln510LeufsTer2
ENST00000543555.6:c.1331_1333delinsT	ENSP00000442697.1:p.Gln444LeufsTer2
ENST00000644092.1:c.1529_1531delinsT	ENSP00000496351.1:p.Gln510LeufsTer2
ENST00000645339.1:c.1529_1531delinsT	ENSP00000496441.1:p.Gln510LeufsTer2
ENST00000645506.1:c.1529_1531delinsT	ENSP00000495455.1:p.Gln510LeufsTer2
ENST00000646415.1:c.1529_1531delinsT	ENSP00000495543.1:p.Gln510LeufsTer2
ENST00000233146.6:c.1529_1531delinsT	ENSP00000233146.2:p.Gln510LeufsTer2
ENST00000406134.5:c.1529_1531delinsT	ENSP00000384199.1:p.Gln510LeufsTer2
ENST00000543555.5:c.1331_1333delinsT	ENSP00000442697.1:p.Gln444LeufsTer2
ENST00000610696.4:c.1529_1531delinsT	ENSP00000483159.1:p.Gln510LeufsTer2
ENST00000613514.4:c.*69_*71delinsT	ENSP00000484137.1:n.*69_*71delinsT
ENST00000617333.3:c.*295_*297delinsT	ENSP00000482468.1:n.*295_*297delinsT
ENST00000617938.4:c.*501_*503delinsT	ENSP00000481158.1:n.*501_*503delinsT
ENST00000621359.2:c.1529_1531delinsT	ENSP00000481416.1:p.Gln510LeufsTer2
NM_000251.2:c.1529_1531delinsT , LRG_218t1:c.1529_1531delinsT	NP_000242.1:p.Gln510LeufsTer2
NM_001258281.1:c.1331_1333delinsT	NP_001245210.1:p.Gln444LeufsTer2
XM_005264332.2:c.1529_1531delinsT	XP_005264389.2:p.Gln510LeufsTer2
XM_011532867.1:c.1529_1531delinsT	XP_011531169.1:p.Gln510LeufsTer2
XR_939685.1:n.1601_1603delinsT
XM_005264332.4:c.1529_1531delinsT	XP_005264389.2:p.Gln510LeufsTer2
XM_011532867.2:c.1529_1531delinsT	XP_011531169.1:p.Gln510LeufsTer2
XR_001738747.2:n.1591_1593delinsT
XR_939685.2:n.1591_1593delinsT
NM_000251.3:c.1529_1531delinsT MANE Select	NP_000242.1:p.Gln510LeufsTer2