Canonical Allele Identifier: CA2580066909

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1789807
• ClinVar RCV Id: RCV002448249

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478400_47478401dup , CM000664.2:g.47478400_47478401dup	GRCh38
NC_000002.11:g.47705539_47705540dup , CM000664.1:g.47705539_47705540dup	GRCh37
NC_000002.10:g.47559043_47559044dup	NCBI36
NG_007110.2:g.80277_80278dup , LRG_218:g.80277_80278dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2339_2340dup	ENSP00000495641.2:p.Ala781LeufsTer?
ENST00000233146.7:c.2339_2340dup MANE Select	ENSP00000233146.2:p.Ala781LeufsTer?
ENST00000543555.6:c.2141_2142dup	ENSP00000442697.1:p.Ala715LeufsTer?
ENST00000644092.1:c.*639_*640dup	ENSP00000496351.1:n.*639_*640dup
ENST00000644900.1:c.192_193dup
ENST00000645339.1:c.2339_2340dup	ENSP00000496441.1:p.Ala781LeufsTer?
ENST00000645506.1:c.2339_2340dup	ENSP00000495455.1:p.Ala781LeufsTer?
ENST00000646415.1:c.2339_2340dup	ENSP00000495543.1:p.Ala781LeufsTer?
ENST00000233146.6:c.2339_2340dup	ENSP00000233146.2:p.Ala781LeufsTer?
ENST00000406134.5:c.2339_2340dup	ENSP00000384199.1:p.Ala781LeufsTer?
ENST00000543555.5:c.2141_2142dup	ENSP00000442697.1:p.Ala715LeufsTer?
ENST00000610696.4:c.*735_*736dup	ENSP00000483159.1:n.*735_*736dup
ENST00000613514.4:c.*879_*880dup	ENSP00000484137.1:n.*879_*880dup
ENST00000617333.3:c.*1105_*1106dup	ENSP00000482468.1:n.*1105_*1106dup
ENST00000617938.4:c.*1311_*1312dup	ENSP00000481158.1:n.*1311_*1312dup
ENST00000621359.2:c.2339_2340dup	ENSP00000481416.1:p.Ala781LeufsTer6
NM_000251.2:c.2339_2340dup , LRG_218t1:c.2339_2340dup	NP_000242.1:p.Ala781LeufsTer?
NM_001258281.1:c.2141_2142dup	NP_001245210.1:p.Ala715LeufsTer?
XM_005264332.2:c.2339_2340dup	XP_005264389.2:p.Ala781LeufsTer?
XM_011532867.1:c.2339_2340dup	XP_011531169.1:p.Ala781LeufsTer?
XR_939685.1:n.2411_2412dup
XM_005264332.4:c.2339_2340dup	XP_005264389.2:p.Ala781LeufsTer?
XM_011532867.2:c.2339_2340dup	XP_011531169.1:p.Ala781LeufsTer?
XR_001738747.2:n.2401_2402dup
XR_939685.2:n.2401_2402dup
NM_000251.3:c.2339_2340dup MANE Select	NP_000242.1:p.Ala781LeufsTer?