Canonical Allele Identifier: CA891862750

Gene: MSH2

Linked Data

• ClinVar Variation Id: 590849
• ClinVar RCV Id: RCV000722035
• dbSNP Id: rs1558518449
• MyVariant Identifiers: chr2:g.47702362_47702369del (hg19) ; chr2:g.47475223_47475230del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475223_47475230del , CM000664.2:g.47475223_47475230del	GRCh38
NC_000002.11:g.47702362_47702369del , CM000664.1:g.47702362_47702369del	GRCh37
NC_000002.10:g.47555866_47555873del	NCBI36
NG_007110.2:g.77100_77107del , LRG_218:g.77100_77107del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1958_1965del	ENSP00000495641.2:p.Asn653IlefsTer3
ENST00000233146.7:c.1958_1965del MANE Select	ENSP00000233146.2:p.Asn653IlefsTer3
ENST00000543555.6:c.1760_1767del	ENSP00000442697.1:p.Asn587IlefsTer3
ENST00000644092.1:c.*258_*265del	ENSP00000496351.1:n.*258_*265del
ENST00000645339.1:c.1958_1965del	ENSP00000496441.1:p.Asn653IlefsTer3
ENST00000645506.1:c.1958_1965del	ENSP00000495455.1:p.Asn653IlefsTer3
ENST00000646415.1:c.1958_1965del	ENSP00000495543.1:p.Asn653IlefsTer3
ENST00000233146.6:c.1958_1965del	ENSP00000233146.2:p.Asn653IlefsTer3
ENST00000406134.5:c.1958_1965del	ENSP00000384199.1:p.Asn653IlefsTer3
ENST00000543555.5:c.1760_1767del	ENSP00000442697.1:p.Asn587IlefsTer3
ENST00000610696.4:c.*354_*361del	ENSP00000483159.1:n.*354_*361del
ENST00000613514.4:c.*498_*505del	ENSP00000484137.1:n.*498_*505del
ENST00000617333.3:c.*724_*731del	ENSP00000482468.1:n.*724_*731del
ENST00000617938.4:c.*930_*937del	ENSP00000481158.1:n.*930_*937del
ENST00000621359.2:c.1958_1965del	ENSP00000481416.1:p.Asn653IlefsTer3
NM_000251.2:c.1958_1965del , LRG_218t1:c.1958_1965del	NP_000242.1:p.Asn653IlefsTer3
NM_001258281.1:c.1760_1767del	NP_001245210.1:p.Asn587IlefsTer3
XM_005264332.2:c.1958_1965del	XP_005264389.2:p.Asn653IlefsTer3
XM_011532867.1:c.1958_1965del	XP_011531169.1:p.Asn653IlefsTer3
XR_939685.1:n.2030_2037del
XM_005264332.4:c.1958_1965del	XP_005264389.2:p.Asn653IlefsTer3
XM_011532867.2:c.1958_1965del	XP_011531169.1:p.Asn653IlefsTer3
XR_001738747.2:n.2020_2027del
XR_939685.2:n.2020_2027del
NM_000251.3:c.1958_1965del MANE Select	NP_000242.1:p.Asn653IlefsTer3