Canonical Allele Identifier: CA020503

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90960
• ClinVar RCV Id: RCV000076462 ; RCV003593901
• dbSNP Id: rs63750803
• MyVariant Identifiers: chr2:g.47705560_47705561dupTT (hg19) ; chr2:g.47478421_47478422dupTT (hg38)
• PubMed: PMID:10713887 ; PMID:15222003

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478421_47478422dup , CM000664.2:g.47478421_47478422dup	GRCh38
NC_000002.11:g.47705560_47705561dup , CM000664.1:g.47705560_47705561dup	GRCh37
NC_000002.10:g.47559064_47559065dup	NCBI36
NG_007110.2:g.80298_80299dup , LRG_218:g.80298_80299dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2360_2361dup	ENSP00000495641.2:p.Thr788LeufsTer25
ENST00000233146.7:c.2360_2361dup MANE Select	ENSP00000233146.2:p.Thr788LeufsTer25
ENST00000543555.6:c.2162_2163dup	ENSP00000442697.1:p.Thr722LeufsTer25
ENST00000644092.1:c.*660_*661dup	ENSP00000496351.1:n.*660_*661dup
ENST00000644900.1:c.213_214dup
ENST00000645339.1:c.2360_2361dup	ENSP00000496441.1:p.Thr788LeufsTer25
ENST00000645506.1:c.2360_2361dup	ENSP00000495455.1:p.Thr788LeufsTer25
ENST00000646415.1:c.2360_2361dup	ENSP00000495543.1:p.Thr788LeufsTer25
ENST00000233146.6:c.2360_2361dup	ENSP00000233146.2:p.Thr788LeufsTer25
ENST00000406134.5:c.2360_2361dup	ENSP00000384199.1:p.Thr788LeufsTer25
ENST00000543555.5:c.2162_2163dup	ENSP00000442697.1:p.Thr722LeufsTer25
ENST00000610696.4:c.*756_*757dup	ENSP00000483159.1:n.*756_*757dup
ENST00000613514.4:c.*900_*901dup	ENSP00000484137.1:n.*900_*901dup
ENST00000617333.3:c.*1126_*1127dup	ENSP00000482468.1:n.*1126_*1127dup
ENST00000617938.4:c.*1332_*1333dup	ENSP00000481158.1:n.*1332_*1333dup
ENST00000621359.2:c.2359_2360dup	ENSP00000481416.1:p.Leu787PhefsTer12
NM_000251.2:c.2360_2361dup , LRG_218t1:c.2360_2361dup	NP_000242.1:p.Thr788LeufsTer25
NM_001258281.1:c.2162_2163dup	NP_001245210.1:p.Thr722LeufsTer25
XM_005264332.2:c.2360_2361dup	XP_005264389.2:p.Thr788LeufsTer25
XM_011532867.1:c.2360_2361dup	XP_011531169.1:p.Thr788LeufsTer25
XR_939685.1:n.2432_2433dup
XM_005264332.4:c.2360_2361dup	XP_005264389.2:p.Thr788LeufsTer25
XM_011532867.2:c.2360_2361dup	XP_011531169.1:p.Thr788LeufsTer25
XR_001738747.2:n.2422_2423dup
XR_939685.2:n.2422_2423dup
NM_000251.3:c.2360_2361dup MANE Select	NP_000242.1:p.Thr788LeufsTer25