Canonical Allele Identifier: CA331685

Gene: MSH2

Linked Data

• ClinVar Variation Id: 91212
• ClinVar RCV Id: RCV000076716
• dbSNP Id: rs1553352366
• MyVariant Identifiers: chr2:g.47641402_47642007del (hg19) ; chr2:g.47414263_47414868del (hg38)
• PubMed: PMID:10850409 ; PMID:11830542 ; PMID:14729822 ; PMID:18496770

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47414263_47414868del , CM000664.2:g.47414263_47414868del	GRCh38
NC_000002.11:g.47641402_47642007del , CM000664.1:g.47641402_47642007del	GRCh37
NC_000002.10:g.47494906_47495511del	NCBI36
NG_007110.2:g.16140_16745del , LRG_218:g.16140_16745del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.793-6_942+450del
ENST00000233146.7:c.793-6_942+450del
ENST00000543555.6:c.595-6_744+450del
ENST00000644092.1:c.793-6_942+450del
ENST00000645339.1:c.793-6_942+450del
ENST00000645506.1:c.793-6_942+450del
ENST00000646415.1:c.793-6_942+450del
ENST00000233146.6:c.793-6_942+450del
ENST00000406134.5:c.793-6_942+450del
ENST00000543555.5:c.595-6_744+450del
ENST00000610696.4:c.793-6_942+450del
ENST00000613514.4:c.793-6_942+450del
ENST00000617333.3:c.793-6_942+450del
ENST00000617938.4:c.793-6_942+450del
ENST00000621359.2:c.793-6_942+450del
NM_000251.2:c.793-6_942+450del , LRG_218t1:c.793-6_942+450del
NM_001258281.1:c.595-6_744+450del
XM_005264332.2:c.793-6_942+450del
XM_011532867.1:c.793-6_942+450del
XR_939685.1:n.865-6_1014+450del
XM_005264332.4:c.793-6_942+450del
XM_011532867.2:c.793-6_942+450del
XR_001738747.2:n.855-6_1004+450del
XR_939685.2:n.855-6_1004+450del
NM_000251.3:c.793-6_942+450del