Canonical Allele Identifier: CA2499216016

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1050647
• ClinVar RCV Id: RCV001358337

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47414267_47416282del , CM000664.2:g.47414267_47416282del	GRCh38
NC_000002.11:g.47641406_47643421del , CM000664.1:g.47641406_47643421del	GRCh37
NC_000002.10:g.47494910_47496925del	NCBI36
NG_007110.2:g.16144_18159del , LRG_218:g.16144_18159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.793-2_943-14del
ENST00000233146.7:c.793-2_943-14del
ENST00000543555.6:c.595-2_745-14del
ENST00000644092.1:c.793-2_943-14del
ENST00000645339.1:c.793-2_943-14del
ENST00000645506.1:c.793-2_943-14del
ENST00000646415.1:c.793-2_943-14del
ENST00000233146.6:c.793-2_943-14del
ENST00000406134.5:c.793-2_943-14del
ENST00000543555.5:c.595-2_745-14del
ENST00000610696.4:c.793-2_943-14del
ENST00000613514.4:c.793-2_943-14del
ENST00000617333.3:c.793-2_943-14del
ENST00000617938.4:c.793-2_943-14del
ENST00000621359.2:c.793-2_943-14del
NM_000251.2:c.793-2_943-14del , LRG_218t1:c.793-2_943-14del
NM_001258281.1:c.595-2_745-14del
XM_005264332.2:c.793-2_943-14del
XM_011532867.1:c.793-2_943-14del
XR_939685.1:n.865-2_1015-14del
XM_005264332.4:c.793-2_943-14del
XM_011532867.2:c.793-2_943-14del
XR_001738747.2:n.855-2_1005-14del
XR_939685.2:n.855-2_1005-14del
NM_000251.3:c.793-2_943-14del