Canonical Allele Identifier: CA020814

Gene: MSH2

Linked Data

• ClinVar Variation Id: 135859
• ClinVar RCV Id: RCV000122987 ; RCV000411448 ; RCV000563636 ; RCV003149838 ; RCV002469017 ; RCV003997407
• dbSNP Id: rs587780686
• ExAC: 2:47707991 A / G
• gnomAD v2: 2-47707991-A-G
• gnomAD v4: 2-47480852-A-G
• MyVariant Identifiers: chr2:g.47707991A>G (hg19) ; chr2:g.47480852A>G (hg38)
• PubMed: PMID:23047549 ; PMID:26483394

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480852A>G , CM000664.2:g.47480852A>G	GRCh38
NC_000002.11:g.47707991A>G , CM000664.1:g.47707991A>G	GRCh37
NC_000002.10:g.47561495A>G	NCBI36
NG_007110.2:g.82729A>G , LRG_218:g.82729A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2615A>G	ENSP00000495641.2:p.Lys872Arg
ENST00000233146.7:c.2615A>G MANE Select	ENSP00000233146.2:p.Lys872Arg
ENST00000543555.6:c.2417A>G	ENSP00000442697.1:p.Lys806Arg
ENST00000644092.1:c.*915A>G	ENSP00000496351.1:n.*915A>G
ENST00000644900.1:c.468A>G
ENST00000645339.1:c.2615A>G	ENSP00000496441.1:p.Lys872Arg
ENST00000645506.1:c.2615A>G	ENSP00000495455.1:p.Lys872Arg
ENST00000646415.1:c.2615A>G	ENSP00000495543.1:p.Lys872Arg
ENST00000233146.6:c.2615A>G	ENSP00000233146.2:p.Lys872Arg
ENST00000406134.5:c.2615A>G	ENSP00000384199.1:p.Lys872Arg
ENST00000461394.5:n.56A>G
ENST00000543555.5:c.2417A>G	ENSP00000442697.1:p.Lys806Arg
ENST00000610696.4:c.*1011A>G	ENSP00000483159.1:n.*1011A>G
ENST00000613514.4:c.*1155A>G	ENSP00000484137.1:n.*1155A>G
ENST00000617333.3:c.*1381A>G	ENSP00000482468.1:n.*1381A>G
ENST00000617938.4:c.*1587A>G	ENSP00000481158.1:n.*1587A>G
ENST00000621359.2:c.*181A>G	ENSP00000481416.1:n.*181A>G
NM_000251.2:c.2615A>G , LRG_218t1:c.2615A>G	NP_000242.1:p.Lys872Arg
NM_001258281.1:c.2417A>G	NP_001245210.1:p.Lys806Arg
XM_005264332.2:c.2615A>G	XP_005264389.2:p.Lys872Arg
XM_011532867.1:c.2615A>G	XP_011531169.1:p.Lys872Arg
XR_939685.1:n.2687A>G
XM_005264332.4:c.2615A>G	XP_005264389.2:p.Lys872Arg
XM_011532867.2:c.2615A>G	XP_011531169.1:p.Lys872Arg
XR_001738747.2:n.2677A>G
XR_939685.2:n.2677A>G
NM_000251.3:c.2615A>G MANE Select	NP_000242.1:p.Lys872Arg