Canonical Allele Identifier: CA198859

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90848
• ClinVar RCV Id: RCV001574231 ; RCV002267842
• dbSNP Id: rs587779126
• ExAC: 2:47703469 T / TTTAA
• gnomAD v2: 2-47703469-T-TTTAA
• gnomAD v3: 2-47476330-T-TTTAA
• gnomAD v4: 2-47476330-T-TTTAA
• MyVariant Identifiers: chr2:g.47703470_47703473dupTTAA (hg19) ; chr2:g.47703469_47703470insTTAA (hg19) ; chr2:g.47476331_47476334dupTTAA (hg38) ; chr2:g.47476330_47476331insTTAA (hg38)
• PubMed: PMID:11376803 ; PMID:22949379

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476331_47476334dup , CM000664.2:g.47476331_47476334dup	GRCh38
NC_000002.11:g.47703470_47703473dup , CM000664.1:g.47703470_47703473dup	GRCh37
NC_000002.10:g.47556974_47556977dup	NCBI36
NG_007110.2:g.78208_78211dup , LRG_218:g.78208_78211dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2006-36_2006-33dup	ENSP00000495641.2:n.2006-36_2006-33dup
ENST00000233146.7:c.2006-36_2006-33dup MANE Select	ENSP00000233146.2:n.2006-36_2006-33dup
ENST00000543555.6:c.1808-36_1808-33dup	ENSP00000442697.1:n.1808-36_1808-33dup
ENST00000644092.1:c.*306-36_*306-33dup	ENSP00000496351.1:n.*306-36_*306-33dup
ENST00000645339.1:c.2006-36_2006-33dup	ENSP00000496441.1:n.2006-36_2006-33dup
ENST00000645506.1:c.2006-36_2006-33dup	ENSP00000495455.1:n.2006-36_2006-33dup
ENST00000646415.1:c.2006-36_2006-33dup	ENSP00000495543.1:n.2006-36_2006-33dup
ENST00000233146.6:c.2006-36_2006-33dup	ENSP00000233146.2:n.2006-36_2006-33dup
ENST00000406134.5:c.2006-36_2006-33dup	ENSP00000384199.1:n.2006-36_2006-33dup
ENST00000543555.5:c.1808-36_1808-33dup	ENSP00000442697.1:n.1808-36_1808-33dup
ENST00000610696.4:c.*402-36_*402-33dup	ENSP00000483159.1:n.*402-36_*402-33dup
ENST00000613514.4:c.*546-36_*546-33dup	ENSP00000484137.1:n.*546-36_*546-33dup
ENST00000617333.3:c.*772-36_*772-33dup	ENSP00000482468.1:n.*772-36_*772-33dup
ENST00000617938.4:c.*978-36_*978-33dup	ENSP00000481158.1:n.*978-36_*978-33dup
ENST00000621359.2:c.2006-36_2006-33dup	ENSP00000481416.1:n.2006-36_2006-33dup
NM_000251.2:c.2006-36_2006-33dup , LRG_218t1:c.2006-36_2006-33dup	NP_000242.1:n.2006-36_2006-33dup
NM_001258281.1:c.1808-36_1808-33dup	NP_001245210.1:n.1808-36_1808-33dup
XM_005264332.2:c.2006-36_2006-33dup	XP_005264389.2:n.2006-36_2006-33dup
XM_011532867.1:c.2006-36_2006-33dup	XP_011531169.1:n.2006-36_2006-33dup
XR_939685.1:n.2078-36_2078-33dup
XM_005264332.4:c.2006-36_2006-33dup	XP_005264389.2:n.2006-36_2006-33dup
XM_011532867.2:c.2006-36_2006-33dup	XP_011531169.1:n.2006-36_2006-33dup
XR_001738747.2:n.2068-36_2068-33dup
XR_939685.2:n.2068-36_2068-33dup
NM_000251.3:c.2006-36_2006-33dup MANE Select	NP_000242.1:n.2006-36_2006-33dup