Canonical Allele Identifier: CA913187937

Gene: MSH2

Linked Data

• ClinVar Variation Id: 628114
• ClinVar RCV Id: RCV000772422
• dbSNP Id: rs1558518329

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475196_47475201del , CM000664.2:g.47475196_47475201del	GRCh38
NC_000002.11:g.47702335_47702340del , CM000664.1:g.47702335_47702340del	GRCh37
NC_000002.10:g.47555839_47555844del	NCBI36
NG_007110.2:g.77073_77078del , LRG_218:g.77073_77078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1931_1936del	ENSP00000495641.2:p.Val644_Gln645del
ENST00000233146.7:c.1931_1936del MANE Select	ENSP00000233146.2:p.Val644_Gln645del
ENST00000543555.6:c.1733_1738del	ENSP00000442697.1:p.Val578_Gln579del
ENST00000644092.1:c.*231_*236del	ENSP00000496351.1:n.*231_*236del
ENST00000645339.1:c.1931_1936del	ENSP00000496441.1:p.Val644_Gln645del
ENST00000645506.1:c.1931_1936del	ENSP00000495455.1:p.Val644_Gln645del
ENST00000646415.1:c.1931_1936del	ENSP00000495543.1:p.Val644_Gln645del
ENST00000233146.6:c.1931_1936del	ENSP00000233146.2:p.Val644_Gln645del
ENST00000406134.5:c.1931_1936del	ENSP00000384199.1:p.Val644_Gln645del
ENST00000543555.5:c.1733_1738del	ENSP00000442697.1:p.Val578_Gln579del
ENST00000610696.4:c.*327_*332del	ENSP00000483159.1:n.*327_*332del
ENST00000613514.4:c.*471_*476del	ENSP00000484137.1:n.*471_*476del
ENST00000617333.3:c.*697_*702del	ENSP00000482468.1:n.*697_*702del
ENST00000617938.4:c.*903_*908del	ENSP00000481158.1:n.*903_*908del
ENST00000621359.2:c.1931_1936del	ENSP00000481416.1:p.Val644_Gln645del
NM_000251.2:c.1931_1936del , LRG_218t1:c.1931_1936del	NP_000242.1:p.Val644_Gln645del
NM_001258281.1:c.1733_1738del	NP_001245210.1:p.Val578_Gln579del
XM_005264332.2:c.1931_1936del	XP_005264389.2:p.Val644_Gln645del
XM_011532867.1:c.1931_1936del	XP_011531169.1:p.Val644_Gln645del
XR_939685.1:n.2003_2008del
XM_005264332.4:c.1931_1936del	XP_005264389.2:p.Val644_Gln645del
XM_011532867.2:c.1931_1936del	XP_011531169.1:p.Val644_Gln645del
XR_001738747.2:n.1993_1998del
XR_939685.2:n.1993_1998del
NM_000251.3:c.1931_1936del MANE Select	NP_000242.1:p.Val644_Gln645del