Canonical Allele Identifier: CA2499216056

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1049214
• ClinVar RCV Id: RCV001355039

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475022_47476067del , CM000664.2:g.47475022_47476067del	GRCh38
NC_000002.11:g.47702161_47703206del , CM000664.1:g.47702161_47703206del	GRCh37
NC_000002.10:g.47555665_47556710del	NCBI36
NG_007110.2:g.76899_77944del , LRG_218:g.76899_77944del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1760-3_2006-300del
ENST00000233146.7:c.1760-3_2006-300del
ENST00000543555.6:c.1562-3_1808-300del
ENST00000644092.1:c.*60-3_*306-300del
ENST00000645339.1:c.1760-3_2006-300del
ENST00000645506.1:c.1760-3_2006-300del
ENST00000646415.1:c.1760-3_2006-300del
ENST00000233146.6:c.1760-3_2006-300del
ENST00000406134.5:c.1760-3_2006-300del
ENST00000543555.5:c.1562-3_1808-300del
ENST00000610696.4:c.*156-3_*402-300del
ENST00000613514.4:c.*300-3_*546-300del
ENST00000617333.3:c.*526-3_*772-300del
ENST00000617938.4:c.*732-3_*978-300del
ENST00000621359.2:c.1760-3_2006-300del
NM_000251.2:c.1760-3_2006-300del , LRG_218t1:c.1760-3_2006-300del
NM_001258281.1:c.1562-3_1808-300del
XM_005264332.2:c.1760-3_2006-300del
XM_011532867.1:c.1760-3_2006-300del
XR_939685.1:n.1832-3_2078-300del
XM_005264332.4:c.1760-3_2006-300del
XM_011532867.2:c.1760-3_2006-300del
XR_001738747.2:n.1822-3_2068-300del
XR_939685.2:n.1822-3_2068-300del
NM_000251.3:c.1760-3_2006-300del