Canonical Allele Identifier: CA020483

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90959
• ClinVar RCV Id: RCV000076461 ; RCV003452907 ; RCV003593900
• dbSNP Id: rs63750233
• gnomAD v4: 2-47478405-AC-A
• MyVariant Identifiers: chr2:g.47705547del (hg19) ; chr2:g.47478408del (hg38)
• PubMed: PMID:7726159 ; PMID:9311737 ; PMID:10349986 ; PMID:12414824

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478408del , CM000664.2:g.47478408del	GRCh38
NC_000002.11:g.47705547del , CM000664.1:g.47705547del	GRCh37
NC_000002.10:g.47559051del	NCBI36
NG_007110.2:g.80285del , LRG_218:g.80285del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2347del	ENSP00000495641.2:p.His783IlefsTer29
ENST00000233146.7:c.2347del MANE Select	ENSP00000233146.2:p.His783IlefsTer29
ENST00000543555.6:c.2149del	ENSP00000442697.1:p.His717IlefsTer29
ENST00000644092.1:c.*647del	ENSP00000496351.1:n.*647del
ENST00000644900.1:c.200del
ENST00000645339.1:c.2347del	ENSP00000496441.1:p.His783IlefsTer29
ENST00000645506.1:c.2347del	ENSP00000495455.1:p.His783IlefsTer29
ENST00000646415.1:c.2347del	ENSP00000495543.1:p.His783IlefsTer29
ENST00000233146.6:c.2347del	ENSP00000233146.2:p.His783IlefsTer29
ENST00000406134.5:c.2347del	ENSP00000384199.1:p.His783IlefsTer29
ENST00000543555.5:c.2149del	ENSP00000442697.1:p.His717IlefsTer29
ENST00000610696.4:c.*743del	ENSP00000483159.1:n.*743del
ENST00000613514.4:c.*887del	ENSP00000484137.1:n.*887del
ENST00000617333.3:c.*1113del	ENSP00000482468.1:n.*1113del
ENST00000617938.4:c.*1319del	ENSP00000481158.1:n.*1319del
ENST00000621359.2:c.2347-1del
NM_000251.2:c.2347del , LRG_218t1:c.2347del	NP_000242.1:p.His783IlefsTer29
NM_001258281.1:c.2149del	NP_001245210.1:p.His717IlefsTer29
XM_005264332.2:c.2347del	XP_005264389.2:p.His783IlefsTer29
XM_011532867.1:c.2347del	XP_011531169.1:p.His783IlefsTer29
XR_939685.1:n.2419del
XM_005264332.4:c.2347del	XP_005264389.2:p.His783IlefsTer29
XM_011532867.2:c.2347del	XP_011531169.1:p.His783IlefsTer29
XR_001738747.2:n.2409del
XR_939685.2:n.2409del
NM_000251.3:c.2347del MANE Select	NP_000242.1:p.His783IlefsTer29