Canonical Allele Identifier: CA2580066684
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1771435
ClinVar RCV Id: RCV002396569

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47463031del , CM000664.2:g.47463031del GRCh38
NC_000002.11:g.47690170del , CM000664.1:g.47690170del GRCh37
NC_000002.10:g.47543674del NCBI36
NG_007110.2:g.64908del , LRG_218:g.64908del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1387del
ENST00000233146.7:c.1387del
ENST00000543555.6:c.1189del
ENST00000644092.1:c.1387del
ENST00000645339.1:c.1387del
ENST00000645506.1:c.1387del
ENST00000646415.1:c.1387del
ENST00000233146.6:c.1387del
ENST00000406134.5:c.1387del
ENST00000543555.5:c.1189del
ENST00000610696.4:c.1387del
ENST00000613514.4:c.1387del
ENST00000617333.3:c.*153del
ENST00000617938.4:c.*359del
ENST00000621359.2:c.1387del
NM_000251.2:c.1387del , LRG_218t1:c.1387del
NM_001258281.1:c.1189del
XM_005264332.2:c.1387del
XM_011532867.1:c.1387del
XR_939685.1:n.1459del
XM_005264332.4:c.1387del
XM_011532867.2:c.1387del
XR_001738747.2:n.1449del
XR_939685.2:n.1449del
NM_000251.3:c.1387del