Canonical Allele Identifier: CA020336

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90938
• ClinVar RCV Id: RCV000076440
• dbSNP Id: rs1553369641
• MyVariant Identifiers: chr2:g.47705437_47705438insA (hg19) ; chr2:g.47478298_47478299insA (hg38)
• PubMed: PMID:15713769

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478298_47478299insA , CM000664.2:g.47478298_47478299insA	GRCh38
NC_000002.11:g.47705437_47705438insA , CM000664.1:g.47705437_47705438insA	GRCh37
NC_000002.10:g.47558941_47558942insA	NCBI36
NG_007110.2:g.80175_80176insA , LRG_218:g.80175_80176insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2237_2238insA	ENSP00000495641.2:p.Ile747HisfsTer3
ENST00000233146.7:c.2237_2238insA MANE Select	ENSP00000233146.2:p.Ile747HisfsTer3
ENST00000543555.6:c.2039_2040insA	ENSP00000442697.1:p.Ile681HisfsTer3
ENST00000644092.1:c.*537_*538insA	ENSP00000496351.1:n.*537_*538insA
ENST00000644900.1:c.90_91insA
ENST00000645339.1:c.2237_2238insA	ENSP00000496441.1:p.Ile747HisfsTer3
ENST00000645506.1:c.2237_2238insA	ENSP00000495455.1:p.Ile747HisfsTer3
ENST00000646415.1:c.2237_2238insA	ENSP00000495543.1:p.Ile747HisfsTer3
ENST00000233146.6:c.2237_2238insA	ENSP00000233146.2:p.Ile747HisfsTer3
ENST00000406134.5:c.2237_2238insA	ENSP00000384199.1:p.Ile747HisfsTer3
ENST00000543555.5:c.2039_2040insA	ENSP00000442697.1:p.Ile681HisfsTer3
ENST00000610696.4:c.*633_*634insA	ENSP00000483159.1:n.*633_*634insA
ENST00000613514.4:c.*777_*778insA	ENSP00000484137.1:n.*777_*778insA
ENST00000617333.3:c.*1003_*1004insA	ENSP00000482468.1:n.*1003_*1004insA
ENST00000617938.4:c.*1209_*1210insA	ENSP00000481158.1:n.*1209_*1210insA
ENST00000621359.2:c.2237_2238insA	ENSP00000481416.1:p.Ile747HisfsTer3
NM_000251.2:c.2237_2238insA , LRG_218t1:c.2237_2238insA	NP_000242.1:p.Ile747HisfsTer3
NM_001258281.1:c.2039_2040insA	NP_001245210.1:p.Ile681HisfsTer3
XM_005264332.2:c.2237_2238insA	XP_005264389.2:p.Ile747HisfsTer3
XM_011532867.1:c.2237_2238insA	XP_011531169.1:p.Ile747HisfsTer3
XR_939685.1:n.2309_2310insA
XM_005264332.4:c.2237_2238insA	XP_005264389.2:p.Ile747HisfsTer3
XM_011532867.2:c.2237_2238insA	XP_011531169.1:p.Ile747HisfsTer3
XR_001738747.2:n.2299_2300insA
XR_939685.2:n.2299_2300insA
NM_000251.3:c.2237_2238insA MANE Select	NP_000242.1:p.Ile747HisfsTer3