Canonical Allele Identifier: CA16616719

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1050394
• ClinVar RCV Id: RCV001357765
• dbSNP Id: rs2104336938

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475055_47475057del , CM000664.2:g.47475055_47475057del	GRCh38
NC_000002.11:g.47702194_47702196del , CM000664.1:g.47702194_47702196del	GRCh37
NC_000002.10:g.47555698_47555700del	NCBI36
NG_007110.2:g.76932_76934del , LRG_218:g.76932_76934del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1790_1792del	ENSP00000495641.2:p.Asp597del
ENST00000233146.7:c.1790_1792del MANE Select	ENSP00000233146.2:p.Asp597del
ENST00000543555.6:c.1592_1594del	ENSP00000442697.1:p.Asp531del
ENST00000644092.1:c.*90_*92del	ENSP00000496351.1:n.*90_*92del
ENST00000645339.1:c.1790_1792del	ENSP00000496441.1:p.Asp597del
ENST00000645506.1:c.1790_1792del	ENSP00000495455.1:p.Asp597del
ENST00000646415.1:c.1790_1792del	ENSP00000495543.1:p.Asp597del
ENST00000233146.6:c.1790_1792del	ENSP00000233146.2:p.Asp597del
ENST00000406134.5:c.1790_1792del	ENSP00000384199.1:p.Asp597del
ENST00000543555.5:c.1592_1594del	ENSP00000442697.1:p.Asp531del
ENST00000610696.4:c.*186_*188del	ENSP00000483159.1:n.*186_*188del
ENST00000613514.4:c.*330_*332del	ENSP00000484137.1:n.*330_*332del
ENST00000617333.3:c.*556_*558del	ENSP00000482468.1:n.*556_*558del
ENST00000617938.4:c.*762_*764del	ENSP00000481158.1:n.*762_*764del
ENST00000621359.2:c.1790_1792del	ENSP00000481416.1:p.Asp597del
NM_000251.2:c.1790_1792del , LRG_218t1:c.1790_1792del	NP_000242.1:p.Asp597del
NM_001258281.1:c.1592_1594del	NP_001245210.1:p.Asp531del
XM_005264332.2:c.1790_1792del	XP_005264389.2:p.Asp597del
XM_011532867.1:c.1790_1792del	XP_011531169.1:p.Asp597del
XR_939685.1:n.1862_1864del
XM_005264332.4:c.1790_1792del	XP_005264389.2:p.Asp597del
XM_011532867.2:c.1790_1792del	XP_011531169.1:p.Asp597del
XR_001738747.2:n.1852_1854del
XR_939685.2:n.1852_1854del
NM_000251.3:c.1790_1792del MANE Select	NP_000242.1:p.Asp597del