Canonical Allele Identifier: CA020756

Gene: MSH2

Linked Data

• ClinVar Variation Id: 140785
• ClinVar RCV Id: RCV000128935 ; RCV000168369 ; RCV000202257 ; RCV000410609 ; RCV000656885 ; RCV000664314
• dbSNP Id: rs587781278
• ExAC: 2:47707949 GAGAATCGCA / G
• gnomAD v2: 2-47707949-GAGAATCGCA-G
• gnomAD v3: 2-47480810-GAGAATCGCA-G
• gnomAD v4: 2-47480810-GAGAATCGCA-G
• MyVariant Identifiers: chr2:g.47707952_47707960del (hg19) ; chr2:g.47707950_47707958del (hg19) ; chr2:g.47480813_47480821del (hg38) ; chr2:g.47480812_47480820del (hg38) ; chr2:g.47480811_47480819del (hg38)
• PubMed: PMID:15254659 ; PMID:15713769 ; PMID:18822302 ; PMID:18990764 ; PMID:24194902 ; PMID:27443514

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480813_47480821del , CM000664.2:g.47480813_47480821del	GRCh38
NC_000002.11:g.47707952_47707960del , CM000664.1:g.47707952_47707960del	GRCh37
NC_000002.10:g.47561456_47561464del	NCBI36
NG_007110.2:g.82690_82698del , LRG_218:g.82690_82698del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2576_2584del	ENSP00000495641.2:p.Glu859_Gln861del
ENST00000233146.7:c.2576_2584del MANE Select	ENSP00000233146.2:p.Glu859_Gln861del
ENST00000543555.6:c.2378_2386del	ENSP00000442697.1:p.Glu793_Gln795del
ENST00000644092.1:c.*876_*884del	ENSP00000496351.1:n.*876_*884del
ENST00000644900.1:c.429_437del
ENST00000645339.1:c.2576_2584del	ENSP00000496441.1:p.Glu859_Gln861del
ENST00000645506.1:c.2576_2584del	ENSP00000495455.1:p.Glu859_Gln861del
ENST00000646415.1:c.2576_2584del	ENSP00000495543.1:p.Glu859_Gln861del
ENST00000233146.6:c.2576_2584del	ENSP00000233146.2:p.Glu859_Gln861del
ENST00000406134.5:c.2576_2584del	ENSP00000384199.1:p.Glu859_Gln861del
ENST00000461394.5:n.17_25del
ENST00000543555.5:c.2378_2386del	ENSP00000442697.1:p.Glu793_Gln795del
ENST00000610696.4:c.*972_*980del	ENSP00000483159.1:n.*972_*980del
ENST00000613514.4:c.*1116_*1124del	ENSP00000484137.1:n.*1116_*1124del
ENST00000617333.3:c.*1342_*1350del	ENSP00000482468.1:n.*1342_*1350del
ENST00000617938.4:c.*1548_*1556del	ENSP00000481158.1:n.*1548_*1556del
ENST00000621359.2:c.*142_*150del	ENSP00000481416.1:n.*142_*150del
NM_000251.2:c.2576_2584del , LRG_218t1:c.2576_2584del	NP_000242.1:p.Glu859_Gln861del
NM_001258281.1:c.2378_2386del	NP_001245210.1:p.Glu793_Gln795del
XM_005264332.2:c.2576_2584del	XP_005264389.2:p.Glu859_Gln861del
XM_011532867.1:c.2576_2584del	XP_011531169.1:p.Glu859_Gln861del
XR_939685.1:n.2648_2656del
XM_005264332.4:c.2576_2584del	XP_005264389.2:p.Glu859_Gln861del
XM_011532867.2:c.2576_2584del	XP_011531169.1:p.Glu859_Gln861del
XR_001738747.2:n.2638_2646del
XR_939685.2:n.2638_2646del
NM_000251.3:c.2576_2584del MANE Select	NP_000242.1:p.Glu859_Gln861del