Canonical Allele Identifier: CA2499216008

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1050128
• ClinVar RCV Id: RCV001357072
• dbSNP Id: rs2104016560

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47410092_47410373del , CM000664.2:g.47410092_47410373del	GRCh38
NC_000002.11:g.47637231_47637512del , CM000664.1:g.47637231_47637512del	GRCh37
NC_000002.10:g.47490735_47491016del	NCBI36
NG_007110.2:g.11969_12250del , LRG_218:g.11969_12250del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.367-2_645+1del
ENST00000233146.7:c.367-2_645+1del
ENST00000543555.6:c.169-2_447+1del
ENST00000644092.1:c.367-2_645+1del
ENST00000645339.1:c.367-2_645+1del
ENST00000645506.1:c.367-2_645+1del
ENST00000646415.1:c.367-2_645+1del
ENST00000233146.6:c.367-2_645+1del
ENST00000406134.5:c.367-2_645+1del
ENST00000543555.5:c.169-2_447+1del
ENST00000610696.4:c.367-2_645+1del
ENST00000613514.4:c.367-2_645+1del
ENST00000617333.3:c.367-2_645+1del
ENST00000617938.4:c.367-2_645+1del
ENST00000621359.2:c.367-2_645+1del
NM_000251.2:c.367-2_645+1del , LRG_218t1:c.367-2_645+1del
NM_001258281.1:c.169-2_447+1del
XM_005264332.2:c.367-2_645+1del
XM_011532867.1:c.367-2_645+1del
XR_939685.1:n.439-2_717+1del
XM_005264332.4:c.367-2_645+1del
XM_011532867.2:c.367-2_645+1del
XR_001738747.2:n.429-2_707+1del
XR_939685.2:n.429-2_707+1del
NM_000251.3:c.367-2_645+1del