Canonical Allele Identifier: CA2573134375

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1446681
• ClinVar RCV Id: RCV001987781
• dbSNP Id: rs2104439370

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47429830del , CM000664.2:g.47429830del	GRCh38
NC_000002.11:g.47656969del , CM000664.1:g.47656969del	GRCh37
NC_000002.10:g.47510473del	NCBI36
NG_007110.2:g.31707del , LRG_218:g.31707del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1165del	ENSP00000495641.2:p.Arg389AspfsTer23
ENST00000233146.7:c.1165del MANE Select	ENSP00000233146.2:p.Arg389AspfsTer23
ENST00000543555.6:c.967del	ENSP00000442697.1:p.Arg323AspfsTer23
ENST00000644092.1:c.1165del	ENSP00000496351.1:p.Arg389AspfsTer23
ENST00000645339.1:c.1165del	ENSP00000496441.1:p.Arg389AspfsTer23
ENST00000645506.1:c.1165del	ENSP00000495455.1:p.Arg389AspfsTer23
ENST00000646415.1:c.1165del	ENSP00000495543.1:p.Arg389AspfsTer23
ENST00000233146.6:c.1165del	ENSP00000233146.2:p.Arg389AspfsTer23
ENST00000406134.5:c.1165del	ENSP00000384199.1:p.Arg389AspfsTer23
ENST00000543555.5:c.967del	ENSP00000442697.1:p.Arg323AspfsTer23
ENST00000610696.4:c.1165del	ENSP00000483159.1:p.Arg389AspfsTer23
ENST00000613514.4:c.1165del	ENSP00000484137.1:p.Arg389AspfsTer23
ENST00000617333.3:c.1164del	ENSP00000482468.1:p.Asp389ThrfsTer27
ENST00000617938.4:c.*137del	ENSP00000481158.1:n.*137del
ENST00000621359.2:c.1165del	ENSP00000481416.1:p.Arg389AspfsTer23
NM_000251.2:c.1165del , LRG_218t1:c.1165del	NP_000242.1:p.Arg389AspfsTer23
NM_001258281.1:c.967del	NP_001245210.1:p.Arg323AspfsTer23
XM_005264332.2:c.1165del	XP_005264389.2:p.Arg389AspfsTer23
XM_011532867.1:c.1165del	XP_011531169.1:p.Arg389AspfsTer23
XR_939685.1:n.1237del
XM_005264332.4:c.1165del	XP_005264389.2:p.Arg389AspfsTer23
XM_011532867.2:c.1165del	XP_011531169.1:p.Arg389AspfsTer23
XR_001738747.2:n.1227del
XR_939685.2:n.1227del
NM_000251.3:c.1165del MANE Select	NP_000242.1:p.Arg389AspfsTer23