Canonical Allele Identifier: CA020901
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 187449
ClinVar RCV Id: RCV000167178 RCV000706985 RCV001356340 RCV003995570
dbSNP Id: rs587780687
gnomAD v4: 2-47482861-T-G
MyVariant Identifiers: chr2:g.47710000T>G (hg19) chr2:g.47482861T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47482861T>G , CM000664.2:g.47482861T>G GRCh38
NC_000002.11:g.47710000T>G , CM000664.1:g.47710000T>G GRCh37
NC_000002.10:g.47563504T>G NCBI36
NG_007110.2:g.84738T>G , LRG_218:g.84738T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2634+1990T>G ENSP00000495641.2:n.2634+1990T>G
ENST00000233146.7:c.2717T>G MANE Select ENSP00000233146.2:p.Ile906Arg
ENST00000543555.6:c.2519T>G ENSP00000442697.1:p.Ile840Arg
ENST00000644092.1:c.*934+1990T>G ENSP00000496351.1:n.*934+1990T>G
ENST00000644900.1:c.487+1990T>G
ENST00000645339.1:c.2634+1990T>G ENSP00000496441.1:n.2634+1990T>G
ENST00000645506.1:c.2634+1990T>G ENSP00000495455.1:n.2634+1990T>G
ENST00000646415.1:c.2634+1990T>G ENSP00000495543.1:n.2634+1990T>G
ENST00000233146.6:c.2717T>G ENSP00000233146.2:p.Ile906Arg
ENST00000406134.5:c.2634+1990T>G ENSP00000384199.1:n.2634+1990T>G
ENST00000461394.5:n.75+1990T>G
ENST00000543555.5:c.2519T>G ENSP00000442697.1:p.Ile840Arg
ENST00000610696.4:c.*1113T>G ENSP00000483159.1:n.*1113T>G
ENST00000613514.4:c.*1257T>G ENSP00000484137.1:n.*1257T>G
ENST00000617333.3:c.*1483T>G ENSP00000482468.1:n.*1483T>G
ENST00000617938.4:c.*1689T>G ENSP00000481158.1:n.*1689T>G
ENST00000621359.2:c.*283T>G ENSP00000481416.1:n.*283T>G
NM_000251.2:c.2717T>G , LRG_218t1:c.2717T>G NP_000242.1:p.Ile906Arg
NM_001258281.1:c.2519T>G NP_001245210.1:p.Ile840Arg
XM_005264332.2:c.2634+1990T>G XP_005264389.2:n.2634+1990T>G
XM_011532867.1:c.2634+1990T>G XP_011531169.1:n.2634+1990T>G
XR_939685.1:n.2706+1990T>G
XM_005264332.4:c.2634+1990T>G XP_005264389.2:n.2634+1990T>G
XM_011532867.2:c.2634+1990T>G XP_011531169.1:n.2634+1990T>G
XR_001738747.2:n.2696+1990T>G
XR_939685.2:n.2696+1990T>G
NM_000251.3:c.2717T>G MANE Select NP_000242.1:p.Ile906Arg
Search 100 bp 5'
Search 100 bp 3'