Canonical Allele Identifier: CA2580066869

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1774192
• ClinVar RCV Id: RCV002392194

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47463157_47463166del , CM000664.2:g.47463157_47463166del	GRCh38
NC_000002.11:g.47690296_47690305del , CM000664.1:g.47690296_47690305del	GRCh37
NC_000002.10:g.47543800_47543809del	NCBI36
NG_007110.2:g.65034_65043del , LRG_218:g.65034_65043del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1510+3_1510+12del
ENST00000233146.7:c.1510+3_1510+12del
ENST00000543555.6:c.1312+3_1312+12del
ENST00000644092.1:c.1510+3_1510+12del
ENST00000645339.1:c.1510+3_1510+12del
ENST00000645506.1:c.1510+3_1510+12del
ENST00000646415.1:c.1510+3_1510+12del
ENST00000233146.6:c.1510+3_1510+12del
ENST00000406134.5:c.1510+3_1510+12del
ENST00000543555.5:c.1312+3_1312+12del
ENST00000610696.4:c.1510+3_1510+12del
ENST00000613514.4:c.*50+3_*50+12del
ENST00000617333.3:c.*276+3_*276+12del
ENST00000617938.4:c.*482+3_*482+12del
ENST00000621359.2:c.1510+3_1510+12del
NM_000251.2:c.1510+3_1510+12del , LRG_218t1:c.1510+3_1510+12del
NM_001258281.1:c.1312+3_1312+12del
XM_005264332.2:c.1510+3_1510+12del
XM_011532867.1:c.1510+3_1510+12del
XR_939685.1:n.1582+3_1582+12del
XM_005264332.4:c.1510+3_1510+12del
XM_011532867.2:c.1510+3_1510+12del
XR_001738747.2:n.1572+3_1572+12del
XR_939685.2:n.1572+3_1572+12del
NM_000251.3:c.1510+3_1510+12del