Canonical Allele Identifier: CA2499215988

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1048904
• ClinVar RCV Id: RCV001354320
• dbSNP Id: rs2104097954

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47412413_47413046del , CM000664.2:g.47412413_47413046del	GRCh38
NC_000002.11:g.47639552_47640185del , CM000664.1:g.47639552_47640185del	GRCh37
NC_000002.10:g.47493056_47493689del	NCBI36
NG_007110.2:g.14290_14923del , LRG_218:g.14290_14923del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.646-1_792+486del
ENST00000233146.7:c.646-1_792+486del
ENST00000543555.6:c.448-1_594+486del
ENST00000644092.1:c.646-1_792+486del
ENST00000645339.1:c.646-1_792+486del
ENST00000645506.1:c.646-1_792+486del
ENST00000646415.1:c.646-1_792+486del
ENST00000233146.6:c.646-1_792+486del
ENST00000406134.5:c.646-1_792+486del
ENST00000543555.5:c.448-1_594+486del
ENST00000610696.4:c.646-1_792+486del
ENST00000613514.4:c.646-1_792+486del
ENST00000617333.3:c.646-1_792+486del
ENST00000617938.4:c.646-1_792+486del
ENST00000621359.2:c.646-1_792+486del
NM_000251.2:c.646-1_792+486del , LRG_218t1:c.646-1_792+486del
NM_001258281.1:c.448-1_594+486del
XM_005264332.2:c.646-1_792+486del
XM_011532867.1:c.646-1_792+486del
XR_939685.1:n.718-1_864+486del
XM_005264332.4:c.646-1_792+486del
XM_011532867.2:c.646-1_792+486del
XR_001738747.2:n.708-1_854+486del
XR_939685.2:n.708-1_854+486del
NM_000251.3:c.646-1_792+486del