Canonical Allele Identifier: CA10577986

Gene: MSH2

Linked Data

• ClinVar Variation Id: 231072
• ClinVar RCV Id: RCV000214939 ; RCV003454629
• dbSNP Id: rs876658940
• MyVariant Identifiers: chr2:g.47702186dupA (hg19) ; chr2:g.47475047dupA (hg38)
• PubMed: PMID:21642682 ; PMID:28514183

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475047dup , CM000664.2:g.47475047dup	GRCh38
NC_000002.11:g.47702186dup , CM000664.1:g.47702186dup	GRCh37
NC_000002.10:g.47555690dup	NCBI36
NG_007110.2:g.76924dup , LRG_218:g.76924dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1782dup	ENSP00000495641.2:p.Leu595ThrfsTer3
ENST00000233146.7:c.1782dup MANE Select	ENSP00000233146.2:p.Leu595ThrfsTer3
ENST00000543555.6:c.1584dup	ENSP00000442697.1:p.Leu529ThrfsTer3
ENST00000644092.1:c.*82dup	ENSP00000496351.1:n.*82dup
ENST00000645339.1:c.1782dup	ENSP00000496441.1:p.Leu595ThrfsTer3
ENST00000645506.1:c.1782dup	ENSP00000495455.1:p.Leu595ThrfsTer3
ENST00000646415.1:c.1782dup	ENSP00000495543.1:p.Leu595ThrfsTer3
ENST00000233146.6:c.1782dup	ENSP00000233146.2:p.Leu595ThrfsTer3
ENST00000406134.5:c.1782dup	ENSP00000384199.1:p.Leu595ThrfsTer3
ENST00000543555.5:c.1584dup	ENSP00000442697.1:p.Leu529ThrfsTer3
ENST00000610696.4:c.*178dup	ENSP00000483159.1:n.*178dup
ENST00000613514.4:c.*322dup	ENSP00000484137.1:n.*322dup
ENST00000617333.3:c.*548dup	ENSP00000482468.1:n.*548dup
ENST00000617938.4:c.*754dup	ENSP00000481158.1:n.*754dup
ENST00000621359.2:c.1782dup	ENSP00000481416.1:p.Leu595ThrfsTer3
NM_000251.2:c.1782dup , LRG_218t1:c.1782dup	NP_000242.1:p.Leu595ThrfsTer3
NM_001258281.1:c.1584dup	NP_001245210.1:p.Leu529ThrfsTer3
XM_005264332.2:c.1782dup	XP_005264389.2:p.Leu595ThrfsTer3
XM_011532867.1:c.1782dup	XP_011531169.1:p.Leu595ThrfsTer3
XR_939685.1:n.1854dup
XM_005264332.4:c.1782dup	XP_005264389.2:p.Leu595ThrfsTer3
XM_011532867.2:c.1782dup	XP_011531169.1:p.Leu595ThrfsTer3
XR_001738747.2:n.1844dup
XR_939685.2:n.1844dup
NM_000251.3:c.1782dup MANE Select	NP_000242.1:p.Leu595ThrfsTer3