Canonical Allele Identifier: CA2573134372

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2574135
• ClinVar RCV Id: RCV003318486

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47427877_47430683del , CM000664.2:g.47427877_47430683del	GRCh38
NC_000002.11:g.47655016_47657822del , CM000664.1:g.47655016_47657822del	GRCh37
NC_000002.10:g.47508520_47511326del	NCBI36
NG_007110.2:g.29754_32560del , LRG_218:g.29754_32560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1077-1865_1276+742del
ENST00000233146.7:c.1077-1865_1276+742del
ENST00000543555.6:c.879-1865_1078+742del
ENST00000644092.1:c.1077-1865_1276+742del
ENST00000645339.1:c.1077-1865_1276+742del
ENST00000645506.1:c.1077-1865_1276+742del
ENST00000646415.1:c.1077-1865_1276+742del
ENST00000233146.6:c.1077-1865_1276+742del
ENST00000406134.5:c.1077-1865_1276+742del
ENST00000543555.5:c.879-1865_1078+742del
ENST00000610696.4:c.1077-1865_1276+742del
ENST00000613514.4:c.1077-1865_1276+742del
ENST00000617333.3:c.1077-1865_*42+742del
ENST00000617938.4:c.*49-1865_*248+742del
ENST00000621359.2:c.1077-1865_1276+742del
NM_000251.2:c.1077-1865_1276+742del , LRG_218t1:c.1077-1865_1276+742del
NM_001258281.1:c.879-1865_1078+742del
XM_005264332.2:c.1077-1865_1276+742del
XM_011532867.1:c.1077-1865_1276+742del
XR_939685.1:n.1149-1865_1348+742del
XM_005264332.4:c.1077-1865_1276+742del
XM_011532867.2:c.1077-1865_1276+742del
XR_001738747.2:n.1139-1865_1338+742del
XR_939685.2:n.1139-1865_1338+742del
NM_000251.3:c.1077-1865_1276+742del