Canonical Allele Identifier: CA2499216055

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1050780
• ClinVar RCV Id: RCV001358642
• dbSNP Id: rs2104334736

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475022_47475723del , CM000664.2:g.47475022_47475723del	GRCh38
NC_000002.11:g.47702161_47702862del , CM000664.1:g.47702161_47702862del	GRCh37
NC_000002.10:g.47555665_47556366del	NCBI36
NG_007110.2:g.76899_77600del , LRG_218:g.76899_77600del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1760-3_2005+453del
ENST00000233146.7:c.1760-3_2005+453del
ENST00000543555.6:c.1562-3_1807+453del
ENST00000644092.1:c.*60-3_*305+453del
ENST00000645339.1:c.1760-3_2005+453del
ENST00000645506.1:c.1760-3_2005+453del
ENST00000646415.1:c.1760-3_2005+453del
ENST00000233146.6:c.1760-3_2005+453del
ENST00000406134.5:c.1760-3_2005+453del
ENST00000543555.5:c.1562-3_1807+453del
ENST00000610696.4:c.*156-3_*401+453del
ENST00000613514.4:c.*300-3_*545+453del
ENST00000617333.3:c.*526-3_*771+453del
ENST00000617938.4:c.*732-3_*977+453del
ENST00000621359.2:c.1760-3_2005+453del
NM_000251.2:c.1760-3_2005+453del , LRG_218t1:c.1760-3_2005+453del
NM_001258281.1:c.1562-3_1807+453del
XM_005264332.2:c.1760-3_2005+453del
XM_011532867.1:c.1760-3_2005+453del
XR_939685.1:n.1832-3_2077+453del
XM_005264332.4:c.1760-3_2005+453del
XM_011532867.2:c.1760-3_2005+453del
XR_001738747.2:n.1822-3_2067+453del
XR_939685.2:n.1822-3_2067+453del
NM_000251.3:c.1760-3_2005+453del