Canonical Allele Identifier: CA913187932

Gene: MSH2

Linked Data

• ClinVar Variation Id: 630180
• ClinVar RCV Id: RCV000775315
• dbSNP Id: rs1558508399

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47463156_47463204del , CM000664.2:g.47463156_47463204del	GRCh38
NC_000002.11:g.47690295_47690343del , CM000664.1:g.47690295_47690343del	GRCh37
NC_000002.10:g.47543799_47543847del	NCBI36
NG_007110.2:g.65033_65081del , LRG_218:g.65033_65081del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1510+2_1510+50del	ENSP00000495641.2:n.1510+2_1510+50del
ENST00000233146.7:c.1510+2_1510+50del MANE Select	ENSP00000233146.2:n.1510+2_1510+50del
ENST00000543555.6:c.1312+2_1312+50del	ENSP00000442697.1:n.1312+2_1312+50del
ENST00000644092.1:c.1510+2_1510+50del	ENSP00000496351.1:n.1510+2_1510+50del
ENST00000645339.1:c.1510+2_1510+50del	ENSP00000496441.1:n.1510+2_1510+50del
ENST00000645506.1:c.1510+2_1510+50del	ENSP00000495455.1:n.1510+2_1510+50del
ENST00000646415.1:c.1510+2_1510+50del	ENSP00000495543.1:n.1510+2_1510+50del
ENST00000233146.6:c.1510+2_1510+50del	ENSP00000233146.2:n.1510+2_1510+50del
ENST00000406134.5:c.1510+2_1510+50del	ENSP00000384199.1:n.1510+2_1510+50del
ENST00000543555.5:c.1312+2_1312+50del	ENSP00000442697.1:n.1312+2_1312+50del
ENST00000610696.4:c.1510+2_1510+50del	ENSP00000483159.1:n.1510+2_1510+50del
ENST00000613514.4:c.*50+2_*50+50del	ENSP00000484137.1:n.*50+2_*50+50del
ENST00000617333.3:c.*276+2_*276+50del	ENSP00000482468.1:n.*276+2_*276+50del
ENST00000617938.4:c.*482+2_*482+50del	ENSP00000481158.1:n.*482+2_*482+50del
ENST00000621359.2:c.1510+2_1510+50del	ENSP00000481416.1:n.1510+2_1510+50del
NM_000251.2:c.1510+2_1510+50del , LRG_218t1:c.1510+2_1510+50del	NP_000242.1:n.1510+2_1510+50del
NM_001258281.1:c.1312+2_1312+50del	NP_001245210.1:n.1312+2_1312+50del
XM_005264332.2:c.1510+2_1510+50del	XP_005264389.2:n.1510+2_1510+50del
XM_011532867.1:c.1510+2_1510+50del	XP_011531169.1:n.1510+2_1510+50del
XR_939685.1:n.1582+2_1582+50del
XM_005264332.4:c.1510+2_1510+50del	XP_005264389.2:n.1510+2_1510+50del
XM_011532867.2:c.1510+2_1510+50del	XP_011531169.1:n.1510+2_1510+50del
XR_001738747.2:n.1572+2_1572+50del
XR_939685.2:n.1572+2_1572+50del
NM_000251.3:c.1510+2_1510+50del MANE Select	NP_000242.1:n.1510+2_1510+50del