Canonical Allele Identifier: CA2580067090
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1791584
ClinVar RCV Id: RCV002455464

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47480691_47480697del , CM000664.2:g.47480691_47480697del GRCh38
NC_000002.11:g.47707830_47707836del , CM000664.1:g.47707830_47707836del GRCh37
NC_000002.10:g.47561334_47561340del NCBI36
NG_007110.2:g.82568_82574del , LRG_218:g.82568_82574del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2459-5_2460del
ENST00000233146.7:c.2459-5_2460del
ENST00000543555.6:c.2261-5_2262del
ENST00000644092.1:c.*759-5_*760del
ENST00000644900.1:c.312-5_313del
ENST00000645339.1:c.2459-5_2460del
ENST00000645506.1:c.2459-5_2460del
ENST00000646415.1:c.2459-5_2460del
ENST00000233146.6:c.2459-5_2460del
ENST00000406134.5:c.2459-5_2460del
ENST00000543555.5:c.2261-5_2262del
ENST00000610696.4:c.*855-5_*856del
ENST00000613514.4:c.*999-5_*1000del
ENST00000617333.3:c.*1225-5_*1226del
ENST00000617938.4:c.*1431-5_*1432del
ENST00000621359.2:c.*25-5_*26del
NM_000251.2:c.2459-5_2460del , LRG_218t1:c.2459-5_2460del
NM_001258281.1:c.2261-5_2262del
XM_005264332.2:c.2459-5_2460del
XM_011532867.1:c.2459-5_2460del
XR_939685.1:n.2531-5_2532del
XM_005264332.4:c.2459-5_2460del
XM_011532867.2:c.2459-5_2460del
XR_001738747.2:n.2521-5_2522del
XR_939685.2:n.2521-5_2522del
NM_000251.3:c.2459-5_2460del