Canonical Allele Identifier: CA279670

Gene: MSH2

Linked Data

• ClinVar Variation Id: 218044
• ClinVar RCV Id: RCV000201981 ; RCV000491734 ; RCV000533797 ; RCV001778790 ; RCV003454521
• dbSNP Id: rs863225394
• MyVariant Identifiers: chr2:g.47705497del (hg19) ; chr2:g.47478358del (hg38)
• PubMed: PMID:21056691

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478358del , CM000664.2:g.47478358del	GRCh38
NC_000002.11:g.47705497del , CM000664.1:g.47705497del	GRCh37
NC_000002.10:g.47559001del	NCBI36
NG_007110.2:g.80235del , LRG_218:g.80235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2297del	ENSP00000495641.2:p.Ile766AsnfsTer?
ENST00000233146.7:c.2297del MANE Select	ENSP00000233146.2:p.Ile766AsnfsTer?
ENST00000543555.6:c.2099del	ENSP00000442697.1:p.Ile700AsnfsTer?
ENST00000644092.1:c.*597del	ENSP00000496351.1:n.*597del
ENST00000644900.1:c.150del
ENST00000645339.1:c.2297del	ENSP00000496441.1:p.Ile766AsnfsTer?
ENST00000645506.1:c.2297del	ENSP00000495455.1:p.Ile766AsnfsTer?
ENST00000646415.1:c.2297del	ENSP00000495543.1:p.Ile766AsnfsTer?
ENST00000233146.6:c.2297del	ENSP00000233146.2:p.Ile766AsnfsTer?
ENST00000406134.5:c.2297del	ENSP00000384199.1:p.Ile766AsnfsTer?
ENST00000543555.5:c.2099del	ENSP00000442697.1:p.Ile700AsnfsTer?
ENST00000610696.4:c.*693del	ENSP00000483159.1:n.*693del
ENST00000613514.4:c.*837del	ENSP00000484137.1:n.*837del
ENST00000617333.3:c.*1063del	ENSP00000482468.1:n.*1063del
ENST00000617938.4:c.*1269del	ENSP00000481158.1:n.*1269del
ENST00000621359.2:c.2297del	ENSP00000481416.1:p.Ile766AsnfsTer20
NM_000251.2:c.2297del , LRG_218t1:c.2297del	NP_000242.1:p.Ile766AsnfsTer?
NM_001258281.1:c.2099del	NP_001245210.1:p.Ile700AsnfsTer?
XM_005264332.2:c.2297del	XP_005264389.2:p.Ile766AsnfsTer?
XM_011532867.1:c.2297del	XP_011531169.1:p.Ile766AsnfsTer?
XR_939685.1:n.2369del
XM_005264332.4:c.2297del	XP_005264389.2:p.Ile766AsnfsTer?
XM_011532867.2:c.2297del	XP_011531169.1:p.Ile766AsnfsTer?
XR_001738747.2:n.2359del
XR_939685.2:n.2359del
NM_000251.3:c.2297del MANE Select	NP_000242.1:p.Ile766AsnfsTer?