Canonical Allele Identifier: CA2499215980

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1050099
• ClinVar RCV Id: RCV001356993
• dbSNP Id: rs2103865151

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403190_47403403del , CM000664.2:g.47403190_47403403del	GRCh38
NC_000002.11:g.47630329_47630542del , CM000664.1:g.47630329_47630542del	GRCh37
NC_000002.10:g.47483833_47484046del	NCBI36
NG_007110.2:g.5067_5280del , LRG_218:g.5067_5280del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.-2_211+1del
ENST00000233146.7:c.-2_211+1del
ENST00000543555.6:c.-31+15_13+1del
ENST00000644092.1:c.-2_211+1del
ENST00000645339.1:c.-2_211+1del
ENST00000645506.1:c.-2_211+1del
ENST00000646415.1:c.-2_211+1del
ENST00000233146.6:c.-2_211+1del
ENST00000406134.5:c.-2_211+1del
ENST00000454849.5:c.-31+15_13+1del
ENST00000543555.5:c.-31+15_13+1del
ENST00000610696.4:c.-2_211+1del
ENST00000613514.4:c.-2_211+1del
ENST00000617333.3:c.-2_211+1del
ENST00000617938.4:c.-2_211+1del
ENST00000621359.2:c.-2_211+1del
NM_000251.2:c.-2_211+1del , LRG_218t1:c.-2_211+1del
NM_001258281.1:c.-31+15_13+1del
XM_005264332.2:c.-2_211+1del
XM_011532867.1:c.-2_211+1del
XR_939685.1:n.71_283+1del
XM_005264332.4:c.-2_211+1del
XM_011532867.2:c.-2_211+1del
XR_001738747.2:n.61_273+1del
XR_939685.2:n.61_273+1del
NM_000251.3:c.-2_211+1del