Canonical Allele Identifier: CA2580067125

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2097370
• ClinVar RCV Id: RCV003028446 ; RCV003455660

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480724_47480730del , CM000664.2:g.47480724_47480730del	GRCh38
NC_000002.11:g.47707863_47707869del , CM000664.1:g.47707863_47707869del	GRCh37
NC_000002.10:g.47561367_47561373del	NCBI36
NG_007110.2:g.82601_82607del , LRG_218:g.82601_82607del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2487_2493del	ENSP00000495641.2:p.His829GlnfsTer10
ENST00000233146.7:c.2487_2493del MANE Select	ENSP00000233146.2:p.His829GlnfsTer10
ENST00000543555.6:c.2289_2295del	ENSP00000442697.1:p.His763GlnfsTer10
ENST00000644092.1:c.*787_*793del	ENSP00000496351.1:n.*787_*793del
ENST00000644900.1:c.340_346del
ENST00000645339.1:c.2487_2493del	ENSP00000496441.1:p.His829GlnfsTer10
ENST00000645506.1:c.2487_2493del	ENSP00000495455.1:p.His829GlnfsTer10
ENST00000646415.1:c.2487_2493del	ENSP00000495543.1:p.His829GlnfsTer10
ENST00000233146.6:c.2487_2493del	ENSP00000233146.2:p.His829GlnfsTer10
ENST00000406134.5:c.2487_2493del	ENSP00000384199.1:p.His829GlnfsTer10
ENST00000543555.5:c.2289_2295del	ENSP00000442697.1:p.His763GlnfsTer10
ENST00000610696.4:c.*883_*889del	ENSP00000483159.1:n.*883_*889del
ENST00000613514.4:c.*1027_*1033del	ENSP00000484137.1:n.*1027_*1033del
ENST00000617333.3:c.*1253_*1259del	ENSP00000482468.1:n.*1253_*1259del
ENST00000617938.4:c.*1459_*1465del	ENSP00000481158.1:n.*1459_*1465del
ENST00000621359.2:c.*53_*59del	ENSP00000481416.1:n.*53_*59del
NM_000251.2:c.2487_2493del , LRG_218t1:c.2487_2493del	NP_000242.1:p.His829GlnfsTer10
NM_001258281.1:c.2289_2295del	NP_001245210.1:p.His763GlnfsTer10
XM_005264332.2:c.2487_2493del	XP_005264389.2:p.His829GlnfsTer10
XM_011532867.1:c.2487_2493del	XP_011531169.1:p.His829GlnfsTer10
XR_939685.1:n.2559_2565del
XM_005264332.4:c.2487_2493del	XP_005264389.2:p.His829GlnfsTer10
XM_011532867.2:c.2487_2493del	XP_011531169.1:p.His829GlnfsTer10
XR_001738747.2:n.2549_2555del
XR_939685.2:n.2549_2555del
NM_000251.3:c.2487_2493del MANE Select	NP_000242.1:p.His829GlnfsTer10