Canonical Allele Identifier: CA2499215982

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1050167
• ClinVar RCV Id: RCV001357158

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403191_47405998del , CM000664.2:g.47403191_47405998del	GRCh38
NC_000002.11:g.47630330_47633137del , CM000664.1:g.47630330_47633137del	GRCh37
NC_000002.10:g.47483834_47486641del	NCBI36
NG_007110.2:g.5068_7875del , LRG_218:g.5068_7875del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.-1_212-2403del
ENST00000233146.7:c.-1_212-2403del
ENST00000543555.6:c.-31+16_14-2403del
ENST00000644092.1:c.-1_212-2403del
ENST00000645339.1:c.-1_212-2403del
ENST00000645506.1:c.-1_212-2403del
ENST00000646415.1:c.-1_212-2403del
ENST00000233146.6:c.-1_212-2403del
ENST00000406134.5:c.-1_212-2403del
ENST00000454849.5:c.-31+16_14-2403del
ENST00000543555.5:c.-31+16_14-2403del
ENST00000610696.4:c.-1_212-2403del
ENST00000613514.4:c.-1_212-2403del
ENST00000617333.3:c.-1_212-2403del
ENST00000617938.4:c.-1_212-2403del
ENST00000621359.2:c.-1_212-2403del
NM_000251.2:c.-1_212-2403del , LRG_218t1:c.-1_212-2403del
NM_001258281.1:c.-31+16_14-2403del
XM_005264332.2:c.-1_212-2403del
XM_011532867.1:c.-1_212-2403del
XR_939685.1:n.72_284-2403del
XM_005264332.4:c.-1_212-2403del
XM_011532867.2:c.-1_212-2403del
XR_001738747.2:n.62_274-2403del
XR_939685.2:n.62_274-2403del
NM_000251.3:c.-1_212-2403del