Canonical Allele Identifier: CA020243

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90921
• ClinVar RCV Id: RCV000076423 ; RCV000490900 ; RCV000524382
• dbSNP Id: rs267608002
• gnomAD v4: 2-47476572-G-A
• MyVariant Identifiers: chr2:g.47703711G>A (hg19) ; chr2:g.47476572G>A (hg38)
• PubMed: PMID:16451135 ; PMID:17189986 ; PMID:17894833 ; PMID:18307539 ; PMID:25980754

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476572G>A , CM000664.2:g.47476572G>A	GRCh38
NC_000002.11:g.47703711G>A , CM000664.1:g.47703711G>A	GRCh37
NC_000002.10:g.47557215G>A	NCBI36
NG_007110.2:g.78449G>A , LRG_218:g.78449G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2210+1G>A	ENSP00000495641.2:n.2210+1G>A
ENST00000233146.7:c.2210+1G>A MANE Select	ENSP00000233146.2:n.2210+1G>A
ENST00000543555.6:c.2012+1G>A	ENSP00000442697.1:n.2012+1G>A
ENST00000644092.1:c.*510+1G>A	ENSP00000496351.1:n.*510+1G>A
ENST00000644900.1:c.63+1G>A
ENST00000645339.1:c.2210+1G>A	ENSP00000496441.1:n.2210+1G>A
ENST00000645506.1:c.2210+1G>A	ENSP00000495455.1:n.2210+1G>A
ENST00000646415.1:c.2210+1G>A	ENSP00000495543.1:n.2210+1G>A
ENST00000233146.6:c.2210+1G>A	ENSP00000233146.2:n.2210+1G>A
ENST00000406134.5:c.2210+1G>A	ENSP00000384199.1:n.2210+1G>A
ENST00000543555.5:c.2012+1G>A	ENSP00000442697.1:n.2012+1G>A
ENST00000610696.4:c.*606+1G>A	ENSP00000483159.1:n.*606+1G>A
ENST00000613514.4:c.*750+1G>A	ENSP00000484137.1:n.*750+1G>A
ENST00000617333.3:c.*976+1G>A	ENSP00000482468.1:n.*976+1G>A
ENST00000617938.4:c.*1182+1G>A	ENSP00000481158.1:n.*1182+1G>A
ENST00000621359.2:c.2210+1G>A	ENSP00000481416.1:n.2210+1G>A
NM_000251.2:c.2210+1G>A , LRG_218t1:c.2210+1G>A	NP_000242.1:n.2210+1G>A
NM_001258281.1:c.2012+1G>A	NP_001245210.1:n.2012+1G>A
XM_005264332.2:c.2210+1G>A	XP_005264389.2:n.2210+1G>A
XM_011532867.1:c.2210+1G>A	XP_011531169.1:n.2210+1G>A
XR_939685.1:n.2282+1G>A
XM_005264332.4:c.2210+1G>A	XP_005264389.2:n.2210+1G>A
XM_011532867.2:c.2210+1G>A	XP_011531169.1:n.2210+1G>A
XR_001738747.2:n.2272+1G>A
XR_939685.2:n.2272+1G>A
NM_000251.3:c.2210+1G>A MANE Select	NP_000242.1:n.2210+1G>A