Canonical Allele Identifier: CA2580066743

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2090591
• ClinVar RCV Id: RCV003013182

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47463060_47463523del , CM000664.2:g.47463060_47463523del	GRCh38
NC_000002.11:g.47690199_47690662del , CM000664.1:g.47690199_47690662del	GRCh37
NC_000002.10:g.47543703_47544166del	NCBI36
NG_007110.2:g.64937_65400del , LRG_218:g.64937_65400del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1416_1510+369del
ENST00000233146.7:c.1416_1510+369del
ENST00000543555.6:c.1218_1312+369del
ENST00000644092.1:c.1416_1510+369del
ENST00000645339.1:c.1416_1510+369del
ENST00000645506.1:c.1416_1510+369del
ENST00000646415.1:c.1416_1510+369del
ENST00000233146.6:c.1416_1510+369del
ENST00000406134.5:c.1416_1510+369del
ENST00000543555.5:c.1218_1312+369del
ENST00000610696.4:c.1416_1510+369del
ENST00000613514.4:c.1416_*50+369del
ENST00000617333.3:c.*182_*276+369del
ENST00000617938.4:c.*388_*482+369del
ENST00000621359.2:c.1416_1510+369del
NM_000251.2:c.1416_1510+369del , LRG_218t1:c.1416_1510+369del
NM_001258281.1:c.1218_1312+369del
XM_005264332.2:c.1416_1510+369del
XM_011532867.1:c.1416_1510+369del
XR_939685.1:n.1488_1582+369del
XM_005264332.4:c.1416_1510+369del
XM_011532867.2:c.1416_1510+369del
XR_001738747.2:n.1478_1572+369del
XR_939685.2:n.1478_1572+369del
NM_000251.3:c.1416_1510+369del