Canonical Allele Identifier: CA020866

Gene: MSH2

Linked Data

• ClinVar Variation Id: 91030
• ClinVar RCV Id: RCV000076532 ; RCV000160633 ; RCV000497287 ; RCV000537212
• dbSNP Id: rs63750084
• gnomAD v4: 2-47482785-GA-G
• MyVariant Identifiers: chr2:g.47709930del (hg19) ; chr2:g.47482791del (hg38)
• PubMed: PMID:11579115 ; PMID:14684585 ; PMID:17473388 ; PMID:17505997

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482791del , CM000664.2:g.47482791del	GRCh38
NC_000002.11:g.47709930del , CM000664.1:g.47709930del	GRCh37
NC_000002.10:g.47563434del	NCBI36
NG_007110.2:g.84668del , LRG_218:g.84668del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2634+1920del	ENSP00000495641.2:n.2634+1920del
ENST00000233146.7:c.2647del MANE Select	ENSP00000233146.2:p.Ile883LeufsTer9
ENST00000543555.6:c.2449del	ENSP00000442697.1:p.Ile817LeufsTer9
ENST00000644092.1:c.*934+1920del	ENSP00000496351.1:n.*934+1920del
ENST00000644900.1:c.487+1920del
ENST00000645339.1:c.2634+1920del	ENSP00000496441.1:n.2634+1920del
ENST00000645506.1:c.2634+1920del	ENSP00000495455.1:n.2634+1920del
ENST00000646415.1:c.2634+1920del	ENSP00000495543.1:n.2634+1920del
ENST00000233146.6:c.2647del	ENSP00000233146.2:p.Ile883LeufsTer9
ENST00000406134.5:c.2634+1920del	ENSP00000384199.1:n.2634+1920del
ENST00000461394.5:n.75+1920del
ENST00000543555.5:c.2449del	ENSP00000442697.1:p.Ile817LeufsTer9
ENST00000610696.4:c.*1043del	ENSP00000483159.1:n.*1043del
ENST00000613514.4:c.*1187del	ENSP00000484137.1:n.*1187del
ENST00000617333.3:c.*1413del	ENSP00000482468.1:n.*1413del
ENST00000617938.4:c.*1619del	ENSP00000481158.1:n.*1619del
ENST00000621359.2:c.*213del	ENSP00000481416.1:n.*213del
NM_000251.2:c.2647del , LRG_218t1:c.2647del	NP_000242.1:p.Ile883LeufsTer9
NM_001258281.1:c.2449del	NP_001245210.1:p.Ile817LeufsTer9
XM_005264332.2:c.2634+1920del	XP_005264389.2:n.2634+1920del
XM_011532867.1:c.2634+1920del	XP_011531169.1:n.2634+1920del
XR_939685.1:n.2706+1920del
XM_005264332.4:c.2634+1920del	XP_005264389.2:n.2634+1920del
XM_011532867.2:c.2634+1920del	XP_011531169.1:n.2634+1920del
XR_001738747.2:n.2696+1920del
XR_939685.2:n.2696+1920del
NM_000251.3:c.2647del MANE Select	NP_000242.1:p.Ile883LeufsTer9