Canonical Allele Identifier: CA16617587

Gene: MSH2

Linked Data

• ClinVar Variation Id: 421732
• ClinVar RCV Id: RCV000486811 ; RCV000690529
• dbSNP Id: rs1064795329
• MyVariant Identifiers: chr2:g.47702162_47702187del (hg19) ; chr2:g.47475023_47475048del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475023_47475048del , CM000664.2:g.47475023_47475048del	GRCh38
NC_000002.11:g.47702162_47702187del , CM000664.1:g.47702162_47702187del	GRCh37
NC_000002.10:g.47555666_47555691del	NCBI36
NG_007110.2:g.76900_76925del , LRG_218:g.76900_76925del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1760-2_1783del
ENST00000233146.7:c.1760-2_1783del
ENST00000543555.6:c.1562-2_1585del
ENST00000644092.1:c.*60-2_*83del
ENST00000645339.1:c.1760-2_1783del
ENST00000645506.1:c.1760-2_1783del
ENST00000646415.1:c.1760-2_1783del
ENST00000233146.6:c.1760-2_1783del
ENST00000406134.5:c.1760-2_1783del
ENST00000543555.5:c.1562-2_1585del
ENST00000610696.4:c.*156-2_*179del
ENST00000613514.4:c.*300-2_*323del
ENST00000617333.3:c.*526-2_*549del
ENST00000617938.4:c.*732-2_*755del
ENST00000621359.2:c.1760-2_1783del
NM_000251.2:c.1760-2_1783del , LRG_218t1:c.1760-2_1783del
NM_001258281.1:c.1562-2_1585del
XM_005264332.2:c.1760-2_1783del
XM_011532867.1:c.1760-2_1783del
XR_939685.1:n.1832-2_1855del
XM_005264332.4:c.1760-2_1783del
XM_011532867.2:c.1760-2_1783del
XR_001738747.2:n.1822-2_1845del
XR_939685.2:n.1822-2_1845del
NM_000251.3:c.1760-2_1783del