Canonical Allele Identifier: CA10582028
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 237391
ClinVar RCV Id: RCV000233718 RCV001016339 RCV001262889 RCV003469138 RCV003998762
dbSNP Id: rs878853813
MyVariant Identifiers: chr2:g.47709980G>T (hg19) chr2:g.47482841G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47482841G>T , CM000664.2:g.47482841G>T GRCh38
NC_000002.11:g.47709980G>T , CM000664.1:g.47709980G>T GRCh37
NC_000002.10:g.47563484G>T NCBI36
NG_007110.2:g.84718G>T , LRG_218:g.84718G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2634+1970G>T ENSP00000495641.2:n.2634+1970G>T
ENST00000233146.7:c.2697G>T MANE Select ENSP00000233146.2:p.Met899Ile
ENST00000543555.6:c.2499G>T ENSP00000442697.1:p.Met833Ile
ENST00000644092.1:c.*934+1970G>T ENSP00000496351.1:n.*934+1970G>T
ENST00000644900.1:c.487+1970G>T
ENST00000645339.1:c.2634+1970G>T ENSP00000496441.1:n.2634+1970G>T
ENST00000645506.1:c.2634+1970G>T ENSP00000495455.1:n.2634+1970G>T
ENST00000646415.1:c.2634+1970G>T ENSP00000495543.1:n.2634+1970G>T
ENST00000233146.6:c.2697G>T ENSP00000233146.2:p.Met899Ile
ENST00000406134.5:c.2634+1970G>T ENSP00000384199.1:n.2634+1970G>T
ENST00000461394.5:n.75+1970G>T
ENST00000543555.5:c.2499G>T ENSP00000442697.1:p.Met833Ile
ENST00000610696.4:c.*1093G>T ENSP00000483159.1:n.*1093G>T
ENST00000613514.4:c.*1237G>T ENSP00000484137.1:n.*1237G>T
ENST00000617333.3:c.*1463G>T ENSP00000482468.1:n.*1463G>T
ENST00000617938.4:c.*1669G>T ENSP00000481158.1:n.*1669G>T
ENST00000621359.2:c.*263G>T ENSP00000481416.1:n.*263G>T
NM_000251.2:c.2697G>T , LRG_218t1:c.2697G>T NP_000242.1:p.Met899Ile
NM_001258281.1:c.2499G>T NP_001245210.1:p.Met833Ile
XM_005264332.2:c.2634+1970G>T XP_005264389.2:n.2634+1970G>T
XM_011532867.1:c.2634+1970G>T XP_011531169.1:n.2634+1970G>T
XR_939685.1:n.2706+1970G>T
XM_005264332.4:c.2634+1970G>T XP_005264389.2:n.2634+1970G>T
XM_011532867.2:c.2634+1970G>T XP_011531169.1:n.2634+1970G>T
XR_001738747.2:n.2696+1970G>T
XR_939685.2:n.2696+1970G>T
NM_000251.3:c.2697G>T MANE Select NP_000242.1:p.Met899Ile
Search 100 bp 5'
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