Canonical Allele Identifier: CA2499216049

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1048971
• ClinVar RCV Id: RCV001354434
• dbSNP Id: rs2104272766

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47470963_47471063del , CM000664.2:g.47470963_47471063del	GRCh38
NC_000002.11:g.47698102_47698202del , CM000664.1:g.47698102_47698202del	GRCh37
NC_000002.10:g.47551606_47551706del	NCBI36
NG_007110.2:g.72840_72940del , LRG_218:g.72840_72940del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1662-2_1759+1del
ENST00000233146.7:c.1662-2_1759+1del
ENST00000543555.6:c.1464-2_1561+1del
ENST00000644092.1:c.1662-25_*59+1del
ENST00000645339.1:c.1662-2_1759+1del
ENST00000645506.1:c.1662-2_1759+1del
ENST00000646415.1:c.1662-2_1759+1del
ENST00000233146.6:c.1662-2_1759+1del
ENST00000406134.5:c.1662-2_1759+1del
ENST00000543555.5:c.1464-2_1561+1del
ENST00000610696.4:c.*58-2_*155+1del
ENST00000613514.4:c.*202-2_*299+1del
ENST00000617333.3:c.*428-2_*525+1del
ENST00000617938.4:c.*634-2_*731+1del
ENST00000621359.2:c.1662-2_1759+1del
NM_000251.2:c.1662-2_1759+1del , LRG_218t1:c.1662-2_1759+1del
NM_001258281.1:c.1464-2_1561+1del
XM_005264332.2:c.1662-2_1759+1del
XM_011532867.1:c.1662-2_1759+1del
XR_939685.1:n.1734-2_1831+1del
XM_005264332.4:c.1662-2_1759+1del
XM_011532867.2:c.1662-2_1759+1del
XR_001738747.2:n.1724-2_1821+1del
XR_939685.2:n.1724-2_1821+1del
NM_000251.3:c.1662-2_1759+1del