Canonical Allele Identifier: CA2586969223

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47470969_47470970insA , CM000664.2:g.47470969_47470970insA	GRCh38
NC_000002.11:g.47698108_47698109insA , CM000664.1:g.47698108_47698109insA	GRCh37
NC_000002.10:g.47551612_47551613insA	NCBI36
NG_007110.2:g.72846_72847insA , LRG_218:g.72846_72847insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1666_1667insA	ENSP00000495641.2:p.Leu556TyrfsTer6
ENST00000233146.7:c.1666_1667insA MANE Select	ENSP00000233146.2:p.Leu556TyrfsTer6
ENST00000543555.6:c.1468_1469insA	ENSP00000442697.1:p.Leu490TyrfsTer6
ENST00000644092.1:c.1662-19_1662-18insA	ENSP00000496351.1:n.1662-19_1662-18insA
ENST00000645339.1:c.1666_1667insA	ENSP00000496441.1:p.Leu556TyrfsTer6
ENST00000645506.1:c.1666_1667insA	ENSP00000495455.1:p.Leu556TyrfsTer6
ENST00000646415.1:c.1666_1667insA	ENSP00000495543.1:p.Leu556TyrfsTer6
ENST00000233146.6:c.1666_1667insA	ENSP00000233146.2:p.Leu556TyrfsTer6
ENST00000406134.5:c.1666_1667insA	ENSP00000384199.1:p.Leu556TyrfsTer6
ENST00000543555.5:c.1468_1469insA	ENSP00000442697.1:p.Leu490TyrfsTer6
ENST00000610696.4:c.*62_*63insA	ENSP00000483159.1:n.*62_*63insA
ENST00000613514.4:c.*206_*207insA	ENSP00000484137.1:n.*206_*207insA
ENST00000617333.3:c.*432_*433insA	ENSP00000482468.1:n.*432_*433insA
ENST00000617938.4:c.*638_*639insA	ENSP00000481158.1:n.*638_*639insA
ENST00000621359.2:c.1666_1667insA	ENSP00000481416.1:p.Leu556TyrfsTer6
NM_000251.2:c.1666_1667insA , LRG_218t1:c.1666_1667insA	NP_000242.1:p.Leu556TyrfsTer6
NM_001258281.1:c.1468_1469insA	NP_001245210.1:p.Leu490TyrfsTer6
XM_005264332.2:c.1666_1667insA	XP_005264389.2:p.Leu556TyrfsTer6
XM_011532867.1:c.1666_1667insA	XP_011531169.1:p.Leu556TyrfsTer6
XR_939685.1:n.1738_1739insA
XM_005264332.4:c.1666_1667insA	XP_005264389.2:p.Leu556TyrfsTer6
XM_011532867.2:c.1666_1667insA	XP_011531169.1:p.Leu556TyrfsTer6
XR_001738747.2:n.1728_1729insA
XR_939685.2:n.1728_1729insA
NM_000251.3:c.1666_1667insA MANE Select	NP_000242.1:p.Leu556TyrfsTer6