Canonical Allele Identifier: CA658795788

Gene: MSH2

Linked Data

• ClinVar Variation Id: 525814
• ClinVar RCV Id: RCV000630138 ; RCV001015815 ; RCV003451503 ; RCV003237962
• dbSNP Id: rs1553370366
• MyVariant Identifiers: chr2:g.47707899dup (hg19) ; chr2:g.47480760dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480760dup , CM000664.2:g.47480760dup	GRCh38
NC_000002.11:g.47707899dup , CM000664.1:g.47707899dup	GRCh37
NC_000002.10:g.47561403dup	NCBI36
NG_007110.2:g.82637dup , LRG_218:g.82637dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2523dup	ENSP00000495641.2:p.Glu842ArgfsTer4
ENST00000233146.7:c.2523dup MANE Select	ENSP00000233146.2:p.Glu842ArgfsTer4
ENST00000543555.6:c.2325dup	ENSP00000442697.1:p.Glu776ArgfsTer4
ENST00000644092.1:c.*823dup	ENSP00000496351.1:n.*823dup
ENST00000644900.1:c.376dup
ENST00000645339.1:c.2523dup	ENSP00000496441.1:p.Glu842ArgfsTer4
ENST00000645506.1:c.2523dup	ENSP00000495455.1:p.Glu842ArgfsTer4
ENST00000646415.1:c.2523dup	ENSP00000495543.1:p.Glu842ArgfsTer4
ENST00000233146.6:c.2523dup	ENSP00000233146.2:p.Glu842ArgfsTer4
ENST00000406134.5:c.2523dup	ENSP00000384199.1:p.Glu842ArgfsTer4
ENST00000543555.5:c.2325dup	ENSP00000442697.1:p.Glu776ArgfsTer4
ENST00000610696.4:c.*919dup	ENSP00000483159.1:n.*919dup
ENST00000613514.4:c.*1063dup	ENSP00000484137.1:n.*1063dup
ENST00000617333.3:c.*1289dup	ENSP00000482468.1:n.*1289dup
ENST00000617938.4:c.*1495dup	ENSP00000481158.1:n.*1495dup
ENST00000621359.2:c.*89dup	ENSP00000481416.1:n.*89dup
NM_000251.2:c.2523dup , LRG_218t1:c.2523dup	NP_000242.1:p.Glu842ArgfsTer4
NM_001258281.1:c.2325dup	NP_001245210.1:p.Glu776ArgfsTer4
XM_005264332.2:c.2523dup	XP_005264389.2:p.Glu842ArgfsTer4
XM_011532867.1:c.2523dup	XP_011531169.1:p.Glu842ArgfsTer4
XR_939685.1:n.2595dup
XM_005264332.4:c.2523dup	XP_005264389.2:p.Glu842ArgfsTer4
XM_011532867.2:c.2523dup	XP_011531169.1:p.Glu842ArgfsTer4
XR_001738747.2:n.2585dup
XR_939685.2:n.2585dup
NM_000251.3:c.2523dup MANE Select	NP_000242.1:p.Glu842ArgfsTer4