Canonical Allele Identifier: CA913188025

Gene: MSH2

Linked Data

• ClinVar Variation Id: 630427
• ClinVar RCV Id: RCV000775698 ; RCV001297142
• dbSNP Id: rs1558526293

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482953del , CM000664.2:g.47482953del	GRCh38
NC_000002.11:g.47710092del , CM000664.1:g.47710092del	GRCh37
NC_000002.10:g.47563596del	NCBI36
NG_007110.2:g.84830del , LRG_218:g.84830del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+2082del	ENSP00000495641.2:n.2634+2082del
ENST00000233146.7:c.*4del MANE Select	ENSP00000233146.2:n.*4del
ENST00000543555.6:c.*4del	ENSP00000442697.1:n.*4del
ENST00000644092.1:c.*934+2082del	ENSP00000496351.1:n.*934+2082del
ENST00000644900.1:c.487+2082del
ENST00000645339.1:c.2634+2082del	ENSP00000496441.1:n.2634+2082del
ENST00000645506.1:c.2634+2082del	ENSP00000495455.1:n.2634+2082del
ENST00000646415.1:c.2634+2082del	ENSP00000495543.1:n.2634+2082del
ENST00000233146.6:c.*4del	ENSP00000233146.2:n.*4del
ENST00000406134.5:c.2634+2082del	ENSP00000384199.1:n.2634+2082del
ENST00000461394.5:n.75+2082del
ENST00000543555.5:c.*4del	ENSP00000442697.1:n.*4del
ENST00000610696.4:c.*1205del	ENSP00000483159.1:n.*1205del
ENST00000613514.4:c.*1349del	ENSP00000484137.1:n.*1349del
ENST00000617333.3:c.*1575del	ENSP00000482468.1:n.*1575del
ENST00000617938.4:c.*1781del	ENSP00000481158.1:n.*1781del
ENST00000621359.2:c.*375del	ENSP00000481416.1:n.*375del
NM_000251.2:c.*4del , LRG_218t1:c.*4del	NP_000242.1:n.*4del
NM_001258281.1:c.*4del	NP_001245210.1:n.*4del
XM_005264332.2:c.2634+2082del	XP_005264389.2:n.2634+2082del
XM_011532867.1:c.2634+2082del	XP_011531169.1:n.2634+2082del
XR_939685.1:n.2706+2082del
XM_005264332.4:c.2634+2082del	XP_005264389.2:n.2634+2082del
XM_011532867.2:c.2634+2082del	XP_011531169.1:n.2634+2082del
XR_001738747.2:n.2696+2082del
XR_939685.2:n.2696+2082del
NM_000251.3:c.*4del MANE Select	NP_000242.1:n.*4del