Canonical Allele Identifier: CA2580067051

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1791207
• ClinVar RCV Id: RCV002459917

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478495del , CM000664.2:g.47478495del	GRCh38
NC_000002.11:g.47705634del , CM000664.1:g.47705634del	GRCh37
NC_000002.10:g.47559138del	NCBI36
NG_007110.2:g.80372del , LRG_218:g.80372del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2434del	ENSP00000495641.2:p.Thr812LeufsTer6
ENST00000233146.7:c.2434del MANE Select	ENSP00000233146.2:p.Thr812LeufsTer6
ENST00000543555.6:c.2236del	ENSP00000442697.1:p.Thr746LeufsTer6
ENST00000644092.1:c.*734del	ENSP00000496351.1:n.*734del
ENST00000644900.1:c.287del
ENST00000645339.1:c.2434del	ENSP00000496441.1:p.Thr812LeufsTer6
ENST00000645506.1:c.2434del	ENSP00000495455.1:p.Thr812LeufsTer6
ENST00000646415.1:c.2434del	ENSP00000495543.1:p.Thr812LeufsTer6
ENST00000233146.6:c.2434del	ENSP00000233146.2:p.Thr812LeufsTer6
ENST00000406134.5:c.2434del	ENSP00000384199.1:p.Thr812LeufsTer6
ENST00000543555.5:c.2236del	ENSP00000442697.1:p.Thr746LeufsTer6
ENST00000610696.4:c.*830del	ENSP00000483159.1:n.*830del
ENST00000613514.4:c.*974del	ENSP00000484137.1:n.*974del
ENST00000617333.3:c.*1200del	ENSP00000482468.1:n.*1200del
ENST00000617938.4:c.*1406del	ENSP00000481158.1:n.*1406del
ENST00000621359.2:c.2433del	ENSP00000481416.1:p.Ter811TyrextTer12
NM_000251.2:c.2434del , LRG_218t1:c.2434del	NP_000242.1:p.Thr812LeufsTer6
NM_001258281.1:c.2236del	NP_001245210.1:p.Thr746LeufsTer6
XM_005264332.2:c.2434del	XP_005264389.2:p.Thr812LeufsTer6
XM_011532867.1:c.2434del	XP_011531169.1:p.Thr812LeufsTer6
XR_939685.1:n.2506del
XM_005264332.4:c.2434del	XP_005264389.2:p.Thr812LeufsTer6
XM_011532867.2:c.2434del	XP_011531169.1:p.Thr812LeufsTer6
XR_001738747.2:n.2496del
XR_939685.2:n.2496del
NM_000251.3:c.2434del MANE Select	NP_000242.1:p.Thr812LeufsTer6