Canonical Allele Identifier: CA020823

Gene: MSH2

Linked Data

• ClinVar Variation Id: 91029
• ClinVar RCV Id: RCV000076531 ; RCV001001138 ; RCV001383025 ; RCV003452930
• dbSNP Id: rs267607920
• MyVariant Identifiers: chr2:g.47635591_47635592del (hg19) ; chr2:g.47408452_47408453del (hg38)
• PubMed: PMID:18772310

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47408452_47408453del , CM000664.2:g.47408452_47408453del	GRCh38
NC_000002.11:g.47635591_47635592del , CM000664.1:g.47635591_47635592del	GRCh37
NC_000002.10:g.47489095_47489096del	NCBI36
NG_007110.2:g.10329_10330del , LRG_218:g.10329_10330del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.263_264del	ENSP00000495641.2:p.Phe88CysfsTer11
ENST00000233146.7:c.263_264del MANE Select	ENSP00000233146.2:p.Phe88CysfsTer11
ENST00000543555.6:c.65_66del	ENSP00000442697.1:p.Phe22CysfsTer11
ENST00000644092.1:c.263_264del	ENSP00000496351.1:p.Phe88CysfsTer11
ENST00000645339.1:c.263_264del	ENSP00000496441.1:p.Phe88CysfsTer11
ENST00000645506.1:c.263_264del	ENSP00000495455.1:p.Phe88CysfsTer11
ENST00000646415.1:c.263_264del	ENSP00000495543.1:p.Phe88CysfsTer11
ENST00000233146.6:c.263_264del	ENSP00000233146.2:p.Phe88CysfsTer11
ENST00000406134.5:c.263_264del	ENSP00000384199.1:p.Phe88CysfsTer11
ENST00000454849.5:c.65_66del	ENSP00000411482.1:p.Phe22CysfsTer11
ENST00000543555.5:c.65_66del	ENSP00000442697.1:p.Phe22CysfsTer11
ENST00000610696.4:c.263_264del	ENSP00000483159.1:p.Phe88CysfsTer11
ENST00000613514.4:c.263_264del	ENSP00000484137.1:p.Phe88CysfsTer11
ENST00000617333.3:c.263_264del	ENSP00000482468.1:p.Phe88CysfsTer11
ENST00000617938.4:c.263_264del	ENSP00000481158.1:p.Phe88CysfsTer11
ENST00000621359.2:c.263_264del	ENSP00000481416.1:p.Phe88CysfsTer11
NM_000251.2:c.263_264del , LRG_218t1:c.263_264del	NP_000242.1:p.Phe88CysfsTer11
NM_001258281.1:c.65_66del	NP_001245210.1:p.Phe22CysfsTer11
XM_005264332.2:c.263_264del	XP_005264389.2:p.Phe88CysfsTer11
XM_011532867.1:c.263_264del	XP_011531169.1:p.Phe88CysfsTer11
XR_939685.1:n.335_336del
XM_005264332.4:c.263_264del	XP_005264389.2:p.Phe88CysfsTer11
XM_011532867.2:c.263_264del	XP_011531169.1:p.Phe88CysfsTer11
XR_001738747.2:n.325_326del
XR_939685.2:n.325_326del
NM_000251.3:c.263_264del MANE Select	NP_000242.1:p.Phe88CysfsTer11