Canonical Allele Identifier: CA331375

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90774
• ClinVar RCV Id: RCV000076273
• MyVariant Identifiers: chr2:g.47701803_47708848del (hg19) ; chr2:g.47474664_47481709del (hg38)
• PubMed: PMID:12494471 ; PMID:15849733

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47474664_47481709del , CM000664.2:g.47474664_47481709del	GRCh38
NC_000002.11:g.47701803_47708848del , CM000664.1:g.47701803_47708848del	GRCh37
NC_000002.10:g.47555307_47562352del	NCBI36
NG_007110.2:g.76541_83586del , LRG_218:g.76541_83586del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1760-361_2634+838del
ENST00000233146.7:c.1760-361_2634+838del
ENST00000543555.6:c.1562-361_2436+838del
ENST00000644092.1:c.*60-361_*934+838del
ENST00000645339.1:c.1760-361_2634+838del
ENST00000645506.1:c.1760-361_2634+838del
ENST00000646415.1:c.1760-361_2634+838del
ENST00000233146.6:c.1760-361_2634+838del
ENST00000406134.5:c.1760-361_2634+838del
ENST00000543555.5:c.1562-361_2436+838del
ENST00000610696.4:c.*156-361_*1030+838del
ENST00000613514.4:c.*300-361_*1174+838del
ENST00000617333.3:c.*526-361_*1400+838del
ENST00000617938.4:c.*732-361_*1606+838del
ENST00000621359.2:c.1760-361_*200+838del
NM_000251.2:c.1760-361_2634+838del , LRG_218t1:c.1760-361_2634+838del
NM_001258281.1:c.1562-361_2436+838del
XM_005264332.2:c.1760-361_2634+838del
XM_011532867.1:c.1760-361_2634+838del
XR_939685.1:n.1832-361_2706+838del
XM_005264332.4:c.1760-361_2634+838del
XM_011532867.2:c.1760-361_2634+838del
XR_001738747.2:n.1822-361_2696+838del
XR_939685.2:n.1822-361_2696+838del
NM_000251.3:c.1760-361_2634+838del