Canonical Allele Identifier: CA331417

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90824
• ClinVar RCV Id: RCV000076326
• dbSNP Id: rs587779118
• MyVariant Identifiers: chr2:g.47702371_47702374dupACTT (hg19) ; chr2:g.47475232_47475235dupACTT (hg38)
• PubMed: PMID:21681552 ; PMID:28874130

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475232_47475235dup , CM000664.2:g.47475232_47475235dup	GRCh38
NC_000002.11:g.47702371_47702374dup , CM000664.1:g.47702371_47702374dup	GRCh37
NC_000002.10:g.47555875_47555878dup	NCBI36
NG_007110.2:g.77109_77112dup , LRG_218:g.77109_77112dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1967_1970dup	ENSP00000495641.2:p.Phe657LeufsTer3
ENST00000233146.7:c.1967_1970dup MANE Select	ENSP00000233146.2:p.Phe657LeufsTer3
ENST00000543555.6:c.1769_1772dup	ENSP00000442697.1:p.Phe591LeufsTer3
ENST00000644092.1:c.*267_*270dup	ENSP00000496351.1:n.*267_*270dup
ENST00000645339.1:c.1967_1970dup	ENSP00000496441.1:p.Phe657LeufsTer3
ENST00000645506.1:c.1967_1970dup	ENSP00000495455.1:p.Phe657LeufsTer3
ENST00000646415.1:c.1967_1970dup	ENSP00000495543.1:p.Phe657LeufsTer3
ENST00000233146.6:c.1967_1970dup	ENSP00000233146.2:p.Phe657LeufsTer3
ENST00000406134.5:c.1967_1970dup	ENSP00000384199.1:p.Phe657LeufsTer3
ENST00000543555.5:c.1769_1772dup	ENSP00000442697.1:p.Phe591LeufsTer3
ENST00000610696.4:c.*363_*366dup	ENSP00000483159.1:n.*363_*366dup
ENST00000613514.4:c.*507_*510dup	ENSP00000484137.1:n.*507_*510dup
ENST00000617333.3:c.*733_*736dup	ENSP00000482468.1:n.*733_*736dup
ENST00000617938.4:c.*939_*942dup	ENSP00000481158.1:n.*939_*942dup
ENST00000621359.2:c.1967_1970dup	ENSP00000481416.1:p.Phe657LeufsTer3
NM_000251.2:c.1967_1970dup , LRG_218t1:c.1967_1970dup	NP_000242.1:p.Phe657LeufsTer3
NM_001258281.1:c.1769_1772dup	NP_001245210.1:p.Phe591LeufsTer3
XM_005264332.2:c.1967_1970dup	XP_005264389.2:p.Phe657LeufsTer3
XM_011532867.1:c.1967_1970dup	XP_011531169.1:p.Phe657LeufsTer3
XR_939685.1:n.2039_2042dup
XM_005264332.4:c.1967_1970dup	XP_005264389.2:p.Phe657LeufsTer3
XM_011532867.2:c.1967_1970dup	XP_011531169.1:p.Phe657LeufsTer3
XR_001738747.2:n.2029_2032dup
XR_939685.2:n.2029_2032dup
NM_000251.3:c.1967_1970dup MANE Select	NP_000242.1:p.Phe657LeufsTer3