Canonical Allele Identifier: CA2580067363
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1780749
ClinVar RCV Id: RCV002410342

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403373_47403403delinsC , CM000664.2:g.47403373_47403403delinsC GRCh38
NC_000002.11:g.47630512_47630542delinsC , CM000664.1:g.47630512_47630542delinsC GRCh37
NC_000002.10:g.47484016_47484046delinsC NCBI36
NG_007110.2:g.5250_5280delinsC , LRG_218:g.5250_5280delinsC

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.182_211+1delinsC
ENST00000233146.7:c.182_211+1delinsC
ENST00000543555.6:c.-17_13+1delinsC
ENST00000644092.1:c.182_211+1delinsC
ENST00000645339.1:c.182_211+1delinsC
ENST00000645506.1:c.182_211+1delinsC
ENST00000646415.1:c.182_211+1delinsC
ENST00000233146.6:c.182_211+1delinsC
ENST00000406134.5:c.182_211+1delinsC
ENST00000454849.5:c.-17_13+1delinsC
ENST00000543555.5:c.-17_13+1delinsC
ENST00000610696.4:c.182_211+1delinsC
ENST00000613514.4:c.182_211+1delinsC
ENST00000617333.3:c.182_211+1delinsC
ENST00000617938.4:c.182_211+1delinsC
ENST00000621359.2:c.182_211+1delinsC
NM_000251.2:c.182_211+1delinsC , LRG_218t1:c.182_211+1delinsC
NM_001258281.1:c.-17_13+1delinsC
XM_005264332.2:c.182_211+1delinsC
XM_011532867.1:c.182_211+1delinsC
XR_939685.1:n.254_283+1delinsC
XM_005264332.4:c.182_211+1delinsC
XM_011532867.2:c.182_211+1delinsC
XR_001738747.2:n.244_273+1delinsC
XR_939685.2:n.244_273+1delinsC
NM_000251.3:c.182_211+1delinsC