Canonical Allele Identifier: CA017443
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 90560
ClinVar RCV Id: RCV000236371 RCV000491838 RCV000627704 RCV000781559 RCV001030704
dbSNP Id: rs63751260
ExAC: 2:47630448 G / A
gnomAD v2: 2-47630448-G-A
gnomAD v3: 2-47403309-G-A
gnomAD v4: 2-47403309-G-A
MyVariant Identifiers: chr2:g.47630448G>A (hg19) chr2:g.47403309G>A (hg38)
PubMed: PMID:12792735 PMID:18383312
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403309G>A , CM000664.2:g.47403309G>A GRCh38
NC_000002.11:g.47630448G>A , CM000664.1:g.47630448G>A GRCh37
NC_000002.10:g.47483952G>A NCBI36
NG_007110.2:g.5186G>A , LRG_218:g.5186G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.118G>A ENSP00000495641.2:p.Gly40Ser
ENST00000233146.7:c.118G>A MANE Select ENSP00000233146.2:p.Gly40Ser
ENST00000543555.6:c.-30-51G>A ENSP00000442697.1:n.-30-51G>A
ENST00000644092.1:c.118G>A ENSP00000496351.1:p.Gly40Ser
ENST00000645339.1:c.118G>A ENSP00000496441.1:p.Gly40Ser
ENST00000645506.1:c.118G>A ENSP00000495455.1:p.Gly40Ser
ENST00000646415.1:c.118G>A ENSP00000495543.1:p.Gly40Ser
ENST00000233146.6:c.118G>A ENSP00000233146.2:p.Gly40Ser
ENST00000406134.5:c.118G>A ENSP00000384199.1:p.Gly40Ser
ENST00000454849.5:c.-30-51G>A ENSP00000411482.1:n.-30-51G>A
ENST00000543555.5:c.-30-51G>A ENSP00000442697.1:n.-30-51G>A
ENST00000610696.4:c.118G>A ENSP00000483159.1:p.Gly40Ser
ENST00000613514.4:c.118G>A ENSP00000484137.1:p.Gly40Ser
ENST00000617333.3:c.118G>A ENSP00000482468.1:p.Gly40Ser
ENST00000617938.4:c.118G>A ENSP00000481158.1:p.Gly40Ser
ENST00000621359.2:c.118G>A ENSP00000481416.1:p.Gly40Ser
NM_000251.2:c.118G>A , LRG_218t1:c.118G>A NP_000242.1:p.Gly40Ser
NM_001258281.1:c.-30-51G>A NP_001245210.1:n.-30-51G>A
XM_005264332.2:c.118G>A XP_005264389.2:p.Gly40Ser
XM_011532867.1:c.118G>A XP_011531169.1:p.Gly40Ser
XR_939685.1:n.190G>A
XM_005264332.4:c.118G>A XP_005264389.2:p.Gly40Ser
XM_011532867.2:c.118G>A XP_011531169.1:p.Gly40Ser
XR_001738747.2:n.180G>A
XR_939685.2:n.180G>A
NM_000251.3:c.118G>A MANE Select NP_000242.1:p.Gly40Ser
Search 100 bp 5'
Search 100 bp 3'