Canonical Allele Identifier: CA2580066728

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1784222
• ClinVar RCV Id: RCV002417159

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403177_47403507del , CM000664.2:g.47403177_47403507del	GRCh38
NC_000002.11:g.47630316_47630646del , CM000664.1:g.47630316_47630646del	GRCh37
NC_000002.10:g.47483820_47484150del	NCBI36
NG_007110.2:g.5054_5384del , LRG_218:g.5054_5384del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.-15_211+105del
ENST00000233146.7:c.-15_211+105del
ENST00000543555.6:c.-31+2_13+105del
ENST00000644092.1:c.-15_211+105del
ENST00000645339.1:c.-15_211+105del
ENST00000645506.1:c.-15_211+105del
ENST00000646415.1:c.-15_211+105del
ENST00000233146.6:c.-15_211+105del
ENST00000406134.5:c.-15_211+105del
ENST00000454849.5:c.-31+2_13+105del
ENST00000543555.5:c.-31+2_13+105del
ENST00000610696.4:c.-15_211+105del
ENST00000613514.4:c.-15_211+105del
ENST00000617333.3:c.-15_211+105del
ENST00000617938.4:c.-15_211+105del
ENST00000621359.2:c.-15_211+105del
NM_000251.2:c.-15_211+105del , LRG_218t1:c.-15_211+105del
NM_001258281.1:c.-31+2_13+105del
XM_005264332.2:c.-15_211+105del
XM_011532867.1:c.-15_211+105del
XR_939685.1:n.58_283+105del
XM_005264332.4:c.-15_211+105del
XM_011532867.2:c.-15_211+105del
XR_001738747.2:n.48_273+105del
XR_939685.2:n.48_273+105del
NM_000251.3:c.-15_211+105del