Canonical Allele Identifier: CA2580067109
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2430176
ClinVar RCV Id: RCV003128178

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47480696_47480711del , CM000664.2:g.47480696_47480711del GRCh38
NC_000002.11:g.47707835_47707850del , CM000664.1:g.47707835_47707850del GRCh37
NC_000002.10:g.47561339_47561354del NCBI36
NG_007110.2:g.82573_82588del , LRG_218:g.82573_82588del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2459_2474del
ENST00000233146.7:c.2459_2474del
ENST00000543555.6:c.2261_2276del
ENST00000644092.1:c.*759_*774del
ENST00000644900.1:c.312_327del
ENST00000645339.1:c.2459_2474del
ENST00000645506.1:c.2459_2474del
ENST00000646415.1:c.2459_2474del
ENST00000233146.6:c.2459_2474del
ENST00000406134.5:c.2459_2474del
ENST00000543555.5:c.2261_2276del
ENST00000610696.4:c.*855_*870del
ENST00000613514.4:c.*999_*1014del
ENST00000617333.3:c.*1225_*1240del
ENST00000617938.4:c.*1431_*1446del
ENST00000621359.2:c.*25_*40del
NM_000251.2:c.2459_2474del , LRG_218t1:c.2459_2474del
NM_001258281.1:c.2261_2276del
XM_005264332.2:c.2459_2474del
XM_011532867.1:c.2459_2474del
XR_939685.1:n.2531_2546del
XM_005264332.4:c.2459_2474del
XM_011532867.2:c.2459_2474del
XR_001738747.2:n.2521_2536del
XR_939685.2:n.2521_2536del
NM_000251.3:c.2459_2474del