Canonical Allele Identifier: CA331484

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90920
• ClinVar RCV Id: RCV000076422
• MyVariant Identifiers: chr2:g.47703826_47707938del (hg19) ; chr2:g.47476687_47480799del (hg38)
• PubMed: PMID:14729822 ; PMID:17312306 ; PMID:18330910

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476687_47480799del , CM000664.2:g.47476687_47480799del	GRCh38
NC_000002.11:g.47703826_47707938del , CM000664.1:g.47703826_47707938del	GRCh37
NC_000002.10:g.47557330_47561442del	NCBI36
NG_007110.2:g.78564_82676del , LRG_218:g.78564_82676del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2210+116_2562del
ENST00000233146.7:c.2210+116_2562del
ENST00000543555.6:c.2012+116_2364del
ENST00000644092.1:c.*510+116_*862del
ENST00000644900.1:c.63+116_415del
ENST00000645339.1:c.2210+116_2562del
ENST00000645506.1:c.2210+116_2562del
ENST00000646415.1:c.2210+116_2562del
ENST00000233146.6:c.2210+116_2562del
ENST00000406134.5:c.2210+116_2562del
ENST00000543555.5:c.2012+116_2364del
ENST00000610696.4:c.*606+116_*958del
ENST00000613514.4:c.*750+116_*1102del
ENST00000617333.3:c.*976+116_*1328del
ENST00000617938.4:c.*1182+116_*1534del
ENST00000621359.2:c.2210+116_*128del
NM_000251.2:c.2210+116_2562del , LRG_218t1:c.2210+116_2562del
NM_001258281.1:c.2012+116_2364del
XM_005264332.2:c.2210+116_2562del
XM_011532867.1:c.2210+116_2562del
XR_939685.1:n.2282+116_2634del
XM_005264332.4:c.2210+116_2562del
XM_011532867.2:c.2210+116_2562del
XR_001738747.2:n.2272+116_2624del
XR_939685.2:n.2272+116_2624del
NM_000251.3:c.2210+116_2562del