Canonical Allele Identifier: CA2586964877

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476527_47476534del , CM000664.2:g.47476527_47476534del	GRCh38
NC_000002.11:g.47703666_47703673del , CM000664.1:g.47703666_47703673del	GRCh37
NC_000002.10:g.47557170_47557177del	NCBI36
NG_007110.2:g.78404_78411del , LRG_218:g.78404_78411del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2166_2173del	ENSP00000495641.2:p.Ser723HisfsTer3
ENST00000233146.7:c.2166_2173del MANE Select	ENSP00000233146.2:p.Ser723HisfsTer3
ENST00000543555.6:c.1968_1975del	ENSP00000442697.1:p.Ser657HisfsTer3
ENST00000644092.1:c.*466_*473del	ENSP00000496351.1:n.*466_*473del
ENST00000644900.1:c.19_26del
ENST00000645339.1:c.2166_2173del	ENSP00000496441.1:p.Ser723HisfsTer3
ENST00000645506.1:c.2166_2173del	ENSP00000495455.1:p.Ser723HisfsTer3
ENST00000646415.1:c.2166_2173del	ENSP00000495543.1:p.Ser723HisfsTer3
ENST00000233146.6:c.2166_2173del	ENSP00000233146.2:p.Ser723HisfsTer3
ENST00000406134.5:c.2166_2173del	ENSP00000384199.1:p.Ser723HisfsTer3
ENST00000543555.5:c.1968_1975del	ENSP00000442697.1:p.Ser657HisfsTer3
ENST00000610696.4:c.*562_*569del	ENSP00000483159.1:n.*562_*569del
ENST00000613514.4:c.*706_*713del	ENSP00000484137.1:n.*706_*713del
ENST00000617333.3:c.*932_*939del	ENSP00000482468.1:n.*932_*939del
ENST00000617938.4:c.*1138_*1145del	ENSP00000481158.1:n.*1138_*1145del
ENST00000621359.2:c.2166_2173del	ENSP00000481416.1:p.Ser723HisfsTer3
NM_000251.2:c.2166_2173del , LRG_218t1:c.2166_2173del	NP_000242.1:p.Ser723HisfsTer3
NM_001258281.1:c.1968_1975del	NP_001245210.1:p.Ser657HisfsTer3
XM_005264332.2:c.2166_2173del	XP_005264389.2:p.Ser723HisfsTer3
XM_011532867.1:c.2166_2173del	XP_011531169.1:p.Ser723HisfsTer3
XR_939685.1:n.2238_2245del
XM_005264332.4:c.2166_2173del	XP_005264389.2:p.Ser723HisfsTer3
XM_011532867.2:c.2166_2173del	XP_011531169.1:p.Ser723HisfsTer3
XR_001738747.2:n.2228_2235del
XR_939685.2:n.2228_2235del
NM_000251.3:c.2166_2173del MANE Select	NP_000242.1:p.Ser723HisfsTer3