Canonical Allele Identifier: CA2580066797

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1788465
• ClinVar RCV Id: RCV002443574

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478314_47478344del , CM000664.2:g.47478314_47478344del	GRCh38
NC_000002.11:g.47705453_47705483del , CM000664.1:g.47705453_47705483del	GRCh37
NC_000002.10:g.47558957_47558987del	NCBI36
NG_007110.2:g.80191_80221del , LRG_218:g.80191_80221del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2253_2283del	ENSP00000495641.2:p.Arg752Ter
ENST00000233146.7:c.2253_2283del MANE Select	ENSP00000233146.2:p.Arg752Ter
ENST00000543555.6:c.2055_2085del	ENSP00000442697.1:p.Arg686Ter
ENST00000644092.1:c.*553_*583del	ENSP00000496351.1:n.*553_*583del
ENST00000644900.1:c.106_136del
ENST00000645339.1:c.2253_2283del	ENSP00000496441.1:p.Arg752Ter
ENST00000645506.1:c.2253_2283del	ENSP00000495455.1:p.Arg752Ter
ENST00000646415.1:c.2253_2283del	ENSP00000495543.1:p.Arg752Ter
ENST00000233146.6:c.2253_2283del	ENSP00000233146.2:p.Arg752Ter
ENST00000406134.5:c.2253_2283del	ENSP00000384199.1:p.Arg752Ter
ENST00000543555.5:c.2055_2085del	ENSP00000442697.1:p.Arg686Ter
ENST00000610696.4:c.*649_*679del	ENSP00000483159.1:n.*649_*679del
ENST00000613514.4:c.*793_*823del	ENSP00000484137.1:n.*793_*823del
ENST00000617333.3:c.*1019_*1049del	ENSP00000482468.1:n.*1019_*1049del
ENST00000617938.4:c.*1225_*1255del	ENSP00000481158.1:n.*1225_*1255del
ENST00000621359.2:c.2253_2283del	ENSP00000481416.1:p.Arg752Ter
NM_000251.2:c.2253_2283del , LRG_218t1:c.2253_2283del	NP_000242.1:p.Arg752Ter
NM_001258281.1:c.2055_2085del	NP_001245210.1:p.Arg686Ter
XM_005264332.2:c.2253_2283del	XP_005264389.2:p.Arg752Ter
XM_011532867.1:c.2253_2283del	XP_011531169.1:p.Arg752Ter
XR_939685.1:n.2325_2355del
XM_005264332.4:c.2253_2283del	XP_005264389.2:p.Arg752Ter
XM_011532867.2:c.2253_2283del	XP_011531169.1:p.Arg752Ter
XR_001738747.2:n.2315_2345del
XR_939685.2:n.2315_2345del
NM_000251.3:c.2253_2283del MANE Select	NP_000242.1:p.Arg752Ter