Canonical Allele Identifier: CA2499216006

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1050607
• ClinVar RCV Id: RCV001358241
• dbSNP Id: rs2104016493

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47410091_47411003del , CM000664.2:g.47410091_47411003del	GRCh38
NC_000002.11:g.47637230_47638142del , CM000664.1:g.47637230_47638142del	GRCh37
NC_000002.10:g.47490734_47491646del	NCBI36
NG_007110.2:g.11968_12880del , LRG_218:g.11968_12880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.367-3_645+631del
ENST00000233146.7:c.367-3_645+631del
ENST00000543555.6:c.169-3_447+631del
ENST00000644092.1:c.367-3_645+631del
ENST00000645339.1:c.367-3_645+631del
ENST00000645506.1:c.367-3_645+631del
ENST00000646415.1:c.367-3_645+631del
ENST00000233146.6:c.367-3_645+631del
ENST00000406134.5:c.367-3_645+631del
ENST00000543555.5:c.169-3_447+631del
ENST00000610696.4:c.367-3_645+631del
ENST00000613514.4:c.367-3_645+631del
ENST00000617333.3:c.367-3_645+631del
ENST00000617938.4:c.367-3_645+631del
ENST00000621359.2:c.367-3_645+631del
NM_000251.2:c.367-3_645+631del , LRG_218t1:c.367-3_645+631del
NM_001258281.1:c.169-3_447+631del
XM_005264332.2:c.367-3_645+631del
XM_011532867.1:c.367-3_645+631del
XR_939685.1:n.439-3_717+631del
XM_005264332.4:c.367-3_645+631del
XM_011532867.2:c.367-3_645+631del
XR_001738747.2:n.429-3_707+631del
XR_939685.2:n.429-3_707+631del
NM_000251.3:c.367-3_645+631del