Canonical Allele Identifier: CA2586964859

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476437_47476444del , CM000664.2:g.47476437_47476444del	GRCh38
NC_000002.11:g.47703576_47703583del , CM000664.1:g.47703576_47703583del	GRCh37
NC_000002.10:g.47557080_47557087del	NCBI36
NG_007110.2:g.78314_78321del , LRG_218:g.78314_78321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2076_2083del	ENSP00000495641.2:p.Cys693AlafsTer3
ENST00000233146.7:c.2076_2083del MANE Select	ENSP00000233146.2:p.Cys693AlafsTer3
ENST00000543555.6:c.1878_1885del	ENSP00000442697.1:p.Cys627AlafsTer3
ENST00000644092.1:c.*376_*383del	ENSP00000496351.1:n.*376_*383del
ENST00000645339.1:c.2076_2083del	ENSP00000496441.1:p.Cys693AlafsTer3
ENST00000645506.1:c.2076_2083del	ENSP00000495455.1:p.Cys693AlafsTer3
ENST00000646415.1:c.2076_2083del	ENSP00000495543.1:p.Cys693AlafsTer3
ENST00000233146.6:c.2076_2083del	ENSP00000233146.2:p.Cys693AlafsTer3
ENST00000406134.5:c.2076_2083del	ENSP00000384199.1:p.Cys693AlafsTer3
ENST00000543555.5:c.1878_1885del	ENSP00000442697.1:p.Cys627AlafsTer3
ENST00000610696.4:c.*472_*479del	ENSP00000483159.1:n.*472_*479del
ENST00000613514.4:c.*616_*623del	ENSP00000484137.1:n.*616_*623del
ENST00000617333.3:c.*842_*849del	ENSP00000482468.1:n.*842_*849del
ENST00000617938.4:c.*1048_*1055del	ENSP00000481158.1:n.*1048_*1055del
ENST00000621359.2:c.2076_2083del	ENSP00000481416.1:p.Cys693AlafsTer3
NM_000251.2:c.2076_2083del , LRG_218t1:c.2076_2083del	NP_000242.1:p.Cys693AlafsTer3
NM_001258281.1:c.1878_1885del	NP_001245210.1:p.Cys627AlafsTer3
XM_005264332.2:c.2076_2083del	XP_005264389.2:p.Cys693AlafsTer3
XM_011532867.1:c.2076_2083del	XP_011531169.1:p.Cys693AlafsTer3
XR_939685.1:n.2148_2155del
XM_005264332.4:c.2076_2083del	XP_005264389.2:p.Cys693AlafsTer3
XM_011532867.2:c.2076_2083del	XP_011531169.1:p.Cys693AlafsTer3
XR_001738747.2:n.2138_2145del
XR_939685.2:n.2138_2145del
NM_000251.3:c.2076_2083del MANE Select	NP_000242.1:p.Cys693AlafsTer3