Canonical Allele Identifier: CA916080249

Gene: MSH2

Linked Data

• ClinVar Variation Id: 844726
• ClinVar RCV Id: RCV001047648 ; RCV002249654 ; RCV002445249
• dbSNP Id: rs1667395869

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478413del , CM000664.2:g.47478413del	GRCh38
NC_000002.11:g.47705552del , CM000664.1:g.47705552del	GRCh37
NC_000002.10:g.47559056del	NCBI36
NG_007110.2:g.80290del , LRG_218:g.80290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2352del	ENSP00000495641.2:p.His785MetfsTer27
ENST00000233146.7:c.2352del MANE Select	ENSP00000233146.2:p.His785MetfsTer27
ENST00000543555.6:c.2154del	ENSP00000442697.1:p.His719MetfsTer27
ENST00000644092.1:c.*652del	ENSP00000496351.1:n.*652del
ENST00000644900.1:c.205del
ENST00000645339.1:c.2352del	ENSP00000496441.1:p.His785MetfsTer27
ENST00000645506.1:c.2352del	ENSP00000495455.1:p.His785MetfsTer27
ENST00000646415.1:c.2352del	ENSP00000495543.1:p.His785MetfsTer27
ENST00000233146.6:c.2352del	ENSP00000233146.2:p.His785MetfsTer27
ENST00000406134.5:c.2352del	ENSP00000384199.1:p.His785MetfsTer27
ENST00000543555.5:c.2154del	ENSP00000442697.1:p.His719MetfsTer27
ENST00000610696.4:c.*748del	ENSP00000483159.1:n.*748del
ENST00000613514.4:c.*892del	ENSP00000484137.1:n.*892del
ENST00000617333.3:c.*1118del	ENSP00000482468.1:n.*1118del
ENST00000617938.4:c.*1324del	ENSP00000481158.1:n.*1324del
ENST00000621359.2:c.2351del	ENSP00000481416.1:p.Phe784SerfsTer2
NM_000251.2:c.2352del , LRG_218t1:c.2352del	NP_000242.1:p.His785MetfsTer27
NM_001258281.1:c.2154del	NP_001245210.1:p.His719MetfsTer27
XM_005264332.2:c.2352del	XP_005264389.2:p.His785MetfsTer27
XM_011532867.1:c.2352del	XP_011531169.1:p.His785MetfsTer27
XR_939685.1:n.2424del
XM_005264332.4:c.2352del	XP_005264389.2:p.His785MetfsTer27
XM_011532867.2:c.2352del	XP_011531169.1:p.His785MetfsTer27
XR_001738747.2:n.2414del
XR_939685.2:n.2414del
NM_000251.3:c.2352del MANE Select	NP_000242.1:p.His785MetfsTer27