Canonical Allele Identifier: CA2499215997

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1049241
• ClinVar RCV Id: RCV001355108
• dbSNP Id: rs2103974925

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47408400_47409267del , CM000664.2:g.47408400_47409267del	GRCh38
NC_000002.11:g.47635539_47636406del , CM000664.1:g.47635539_47636406del	GRCh37
NC_000002.10:g.47489043_47489910del	NCBI36
NG_007110.2:g.10277_11144del , LRG_218:g.10277_11144del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.212-1_366+712del
ENST00000233146.7:c.212-1_366+712del
ENST00000543555.6:c.14-1_168+712del
ENST00000644092.1:c.212-1_366+712del
ENST00000645339.1:c.212-1_366+712del
ENST00000645506.1:c.212-1_366+712del
ENST00000646415.1:c.212-1_366+712del
ENST00000233146.6:c.212-1_366+712del
ENST00000406134.5:c.212-1_366+712del
ENST00000454849.5:c.14-1_168+712del
ENST00000543555.5:c.14-1_168+712del
ENST00000610696.4:c.212-1_366+712del
ENST00000613514.4:c.212-1_366+712del
ENST00000617333.3:c.212-1_366+712del
ENST00000617938.4:c.212-1_366+712del
ENST00000621359.2:c.212-1_366+712del
NM_000251.2:c.212-1_366+712del , LRG_218t1:c.212-1_366+712del
NM_001258281.1:c.14-1_168+712del
XM_005264332.2:c.212-1_366+712del
XM_011532867.1:c.212-1_366+712del
XR_939685.1:n.284-1_438+712del
XM_005264332.4:c.212-1_366+712del
XM_011532867.2:c.212-1_366+712del
XR_001738747.2:n.274-1_428+712del
XR_939685.2:n.274-1_428+712del
NM_000251.3:c.212-1_366+712del