Canonical Allele Identifier: CA018210

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90654
• ClinVar RCV Id: RCV000076150 ; RCV000115501 ; RCV000148631 ; RCV000121555 ; RCV000664309 ; RCV000986643 ; RCV001798265 ; RCV001354246 ; RCV001719811 ; RCV002477217 ; RCV004537290
• dbSNP Id: rs33946261
• ExAC: 2:47630468 C / G
• gnomAD v2: 2-47630468-C-G
• gnomAD v3: 2-47403329-C-G
• gnomAD v4: 2-47403329-C-G
• MyVariant Identifiers: chr2:g.47630468C>G (hg19) ; chr2:g.47403329C>G (hg38)
• PubMed: PMID:15520370 ; PMID:15872200 ; PMID:16574953 ; PMID:18033691 ; PMID:18383312 ; PMID:19389263 ; PMID:23047549 ; PMID:24055113 ; PMID:24362816 ; PMID:24728327 ; PMID:25479140 ; PMID:25637381 ; PMID:26344056 ; PMID:26951660 ; PMID:27153395 ; PMID:28874130

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403329C>G , CM000664.2:g.47403329C>G	GRCh38
NC_000002.11:g.47630468C>G , CM000664.1:g.47630468C>G	GRCh37
NC_000002.10:g.47483972C>G	NCBI36
NG_007110.2:g.5206C>G , LRG_218:g.5206C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.138C>G	ENSP00000495641.2:p.His46Gln
ENST00000233146.7:c.138C>G MANE Select	ENSP00000233146.2:p.His46Gln
ENST00000543555.6:c.-30-31C>G	ENSP00000442697.1:n.-30-31C>G
ENST00000644092.1:c.138C>G	ENSP00000496351.1:p.His46Gln
ENST00000645339.1:c.138C>G	ENSP00000496441.1:p.His46Gln
ENST00000645506.1:c.138C>G	ENSP00000495455.1:p.His46Gln
ENST00000646415.1:c.138C>G	ENSP00000495543.1:p.His46Gln
ENST00000233146.6:c.138C>G	ENSP00000233146.2:p.His46Gln
ENST00000406134.5:c.138C>G	ENSP00000384199.1:p.His46Gln
ENST00000454849.5:c.-30-31C>G	ENSP00000411482.1:n.-30-31C>G
ENST00000543555.5:c.-30-31C>G	ENSP00000442697.1:n.-30-31C>G
ENST00000610696.4:c.138C>G	ENSP00000483159.1:p.His46Gln
ENST00000613514.4:c.138C>G	ENSP00000484137.1:p.His46Gln
ENST00000617333.3:c.138C>G	ENSP00000482468.1:p.His46Gln
ENST00000617938.4:c.138C>G	ENSP00000481158.1:p.His46Gln
ENST00000621359.2:c.138C>G	ENSP00000481416.1:p.His46Gln
NM_000251.2:c.138C>G , LRG_218t1:c.138C>G	NP_000242.1:p.His46Gln
NM_001258281.1:c.-30-31C>G	NP_001245210.1:n.-30-31C>G
XM_005264332.2:c.138C>G	XP_005264389.2:p.His46Gln
XM_011532867.1:c.138C>G	XP_011531169.1:p.His46Gln
XR_939685.1:n.210C>G
XM_005264332.4:c.138C>G	XP_005264389.2:p.His46Gln
XM_011532867.2:c.138C>G	XP_011531169.1:p.His46Gln
XR_001738747.2:n.200C>G
XR_939685.2:n.200C>G
NM_000251.3:c.138C>G MANE Select	NP_000242.1:p.His46Gln