Canonical Allele Identifier: CA2580066918

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1774646
• ClinVar RCV Id: RCV002402984

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47466679_47466685del , CM000664.2:g.47466679_47466685del	GRCh38
NC_000002.11:g.47693818_47693824del , CM000664.1:g.47693818_47693824del	GRCh37
NC_000002.10:g.47547322_47547328del	NCBI36
NG_007110.2:g.68556_68562del , LRG_218:g.68556_68562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1532_1538del	ENSP00000495641.2:p.Ile511ArgfsTer13
ENST00000233146.7:c.1532_1538del MANE Select	ENSP00000233146.2:p.Ile511ArgfsTer13
ENST00000543555.6:c.1334_1340del	ENSP00000442697.1:p.Ile445ArgfsTer13
ENST00000644092.1:c.1532_1538del	ENSP00000496351.1:p.Ile511ArgfsTer13
ENST00000645339.1:c.1532_1538del	ENSP00000496441.1:p.Ile511ArgfsTer13
ENST00000645506.1:c.1532_1538del	ENSP00000495455.1:p.Ile511ArgfsTer13
ENST00000646415.1:c.1532_1538del	ENSP00000495543.1:p.Ile511ArgfsTer13
ENST00000233146.6:c.1532_1538del	ENSP00000233146.2:p.Ile511ArgfsTer13
ENST00000406134.5:c.1532_1538del	ENSP00000384199.1:p.Ile511ArgfsTer13
ENST00000543555.5:c.1334_1340del	ENSP00000442697.1:p.Ile445ArgfsTer13
ENST00000610696.4:c.1532_1538del	ENSP00000483159.1:p.Ile511ArgfsTer13
ENST00000613514.4:c.*72_*78del	ENSP00000484137.1:n.*72_*78del
ENST00000617333.3:c.*298_*304del	ENSP00000482468.1:n.*298_*304del
ENST00000617938.4:c.*504_*510del	ENSP00000481158.1:n.*504_*510del
ENST00000621359.2:c.1532_1538del	ENSP00000481416.1:p.Ile511ArgfsTer13
NM_000251.2:c.1532_1538del , LRG_218t1:c.1532_1538del	NP_000242.1:p.Ile511ArgfsTer13
NM_001258281.1:c.1334_1340del	NP_001245210.1:p.Ile445ArgfsTer13
XM_005264332.2:c.1532_1538del	XP_005264389.2:p.Ile511ArgfsTer13
XM_011532867.1:c.1532_1538del	XP_011531169.1:p.Ile511ArgfsTer13
XR_939685.1:n.1604_1610del
XM_005264332.4:c.1532_1538del	XP_005264389.2:p.Ile511ArgfsTer13
XM_011532867.2:c.1532_1538del	XP_011531169.1:p.Ile511ArgfsTer13
XR_001738747.2:n.1594_1600del
XR_939685.2:n.1594_1600del
NM_000251.3:c.1532_1538del MANE Select	NP_000242.1:p.Ile511ArgfsTer13