Canonical Allele Identifier: CA2499216048

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1050577
• ClinVar RCV Id: RCV001358178

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47470964_47472110del , CM000664.2:g.47470964_47472110del	GRCh38
NC_000002.11:g.47698103_47699249del , CM000664.1:g.47698103_47699249del	GRCh37
NC_000002.10:g.47551607_47552753del	NCBI36
NG_007110.2:g.72841_73987del , LRG_218:g.72841_73987del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1662-1_1759+1048del
ENST00000233146.7:c.1662-1_1759+1048del
ENST00000543555.6:c.1464-1_1561+1048del
ENST00000644092.1:c.1662-24_*59+1048del
ENST00000645339.1:c.1662-1_1759+1048del
ENST00000645506.1:c.1662-1_1759+1048del
ENST00000646415.1:c.1662-1_1759+1048del
ENST00000233146.6:c.1662-1_1759+1048del
ENST00000406134.5:c.1662-1_1759+1048del
ENST00000543555.5:c.1464-1_1561+1048del
ENST00000610696.4:c.*58-1_*155+1048del
ENST00000613514.4:c.*202-1_*299+1048del
ENST00000617333.3:c.*428-1_*525+1048del
ENST00000617938.4:c.*634-1_*731+1048del
ENST00000621359.2:c.1662-1_1759+1048del
NM_000251.2:c.1662-1_1759+1048del , LRG_218t1:c.1662-1_1759+1048del
NM_001258281.1:c.1464-1_1561+1048del
XM_005264332.2:c.1662-1_1759+1048del
XM_011532867.1:c.1662-1_1759+1048del
XR_939685.1:n.1734-1_1831+1048del
XM_005264332.4:c.1662-1_1759+1048del
XM_011532867.2:c.1662-1_1759+1048del
XR_001738747.2:n.1724-1_1821+1048del
XR_939685.2:n.1724-1_1821+1048del
NM_000251.3:c.1662-1_1759+1048del