Canonical Allele Identifier: CA645369209

Gene: MSH2

Linked Data

• ClinVar Variation Id: 428541
• ClinVar RCV Id: RCV000491680 ; RCV003449373
• dbSNP Id: rs1114167872

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478394_47478395delinsT , CM000664.2:g.47478394_47478395delinsT	GRCh38
NC_000002.11:g.47705533_47705534delinsT , CM000664.1:g.47705533_47705534delinsT	GRCh37
NC_000002.10:g.47559037_47559038delinsT	NCBI36
NG_007110.2:g.80271_80272delinsT , LRG_218:g.80271_80272delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2333_2334delinsT	ENSP00000495641.2:p.Cys778LeufsTer?
ENST00000233146.7:c.2333_2334delinsT MANE Select	ENSP00000233146.2:p.Cys778LeufsTer?
ENST00000543555.6:c.2135_2136delinsT	ENSP00000442697.1:p.Cys712LeufsTer?
ENST00000644092.1:c.*633_*634delinsT	ENSP00000496351.1:n.*633_*634delinsT
ENST00000644900.1:c.186_187delinsT
ENST00000645339.1:c.2333_2334delinsT	ENSP00000496441.1:p.Cys778LeufsTer?
ENST00000645506.1:c.2333_2334delinsT	ENSP00000495455.1:p.Cys778LeufsTer?
ENST00000646415.1:c.2333_2334delinsT	ENSP00000495543.1:p.Cys778LeufsTer?
ENST00000233146.6:c.2333_2334delinsT	ENSP00000233146.2:p.Cys778LeufsTer?
ENST00000406134.5:c.2333_2334delinsT	ENSP00000384199.1:p.Cys778LeufsTer?
ENST00000543555.5:c.2135_2136delinsT	ENSP00000442697.1:p.Cys712LeufsTer?
ENST00000610696.4:c.*729_*730delinsT	ENSP00000483159.1:n.*729_*730delinsT
ENST00000613514.4:c.*873_*874delinsT	ENSP00000484137.1:n.*873_*874delinsT
ENST00000617333.3:c.*1099_*1100delinsT	ENSP00000482468.1:n.*1099_*1100delinsT
ENST00000617938.4:c.*1305_*1306delinsT	ENSP00000481158.1:n.*1305_*1306delinsT
ENST00000621359.2:c.2333_2334delinsT	ENSP00000481416.1:p.Cys778LeufsTer8
NM_000251.2:c.2333_2334delinsT , LRG_218t1:c.2333_2334delinsT	NP_000242.1:p.Cys778LeufsTer?
NM_001258281.1:c.2135_2136delinsT	NP_001245210.1:p.Cys712LeufsTer?
XM_005264332.2:c.2333_2334delinsT	XP_005264389.2:p.Cys778LeufsTer?
XM_011532867.1:c.2333_2334delinsT	XP_011531169.1:p.Cys778LeufsTer?
XR_939685.1:n.2405_2406delinsT
XM_005264332.4:c.2333_2334delinsT	XP_005264389.2:p.Cys778LeufsTer?
XM_011532867.2:c.2333_2334delinsT	XP_011531169.1:p.Cys778LeufsTer?
XR_001738747.2:n.2395_2396delinsT
XR_939685.2:n.2395_2396delinsT
NM_000251.3:c.2333_2334delinsT MANE Select	NP_000242.1:p.Cys778LeufsTer?