Canonical Allele Identifier: CA019485
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 90809
ClinVar RCV Id: RCV000076311 RCV000570107 RCV003452866 RCV003593897
dbSNP Id: rs63750160
MyVariant Identifiers: chr2:g.47630517dupG (hg19) chr2:g.47403378dupG (hg38)
PubMed: PMID:11393127 PMID:15350299
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403378dup , CM000664.2:g.47403378dup GRCh38
NC_000002.11:g.47630517dup , CM000664.1:g.47630517dup GRCh37
NC_000002.10:g.47484021dup NCBI36
NG_007110.2:g.5255dup , LRG_218:g.5255dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.187dup ENSP00000495641.2:p.Val63GlyfsTer19
ENST00000233146.7:c.187dup MANE Select ENSP00000233146.2:p.Val63GlyfsTer19
ENST00000543555.6:c.-12dup ENSP00000442697.1:n.-12dup
ENST00000644092.1:c.187dup ENSP00000496351.1:p.Val63GlyfsTer19
ENST00000645339.1:c.187dup ENSP00000496441.1:p.Val63GlyfsTer19
ENST00000645506.1:c.187dup ENSP00000495455.1:p.Val63GlyfsTer19
ENST00000646415.1:c.187dup ENSP00000495543.1:p.Val63GlyfsTer19
ENST00000233146.6:c.187dup ENSP00000233146.2:p.Val63GlyfsTer19
ENST00000406134.5:c.187dup ENSP00000384199.1:p.Val63GlyfsTer19
ENST00000454849.5:c.-12dup ENSP00000411482.1:n.-12dup
ENST00000543555.5:c.-12dup ENSP00000442697.1:n.-12dup
ENST00000610696.4:c.187dup ENSP00000483159.1:p.Val63GlyfsTer19
ENST00000613514.4:c.187dup ENSP00000484137.1:p.Val63GlyfsTer19
ENST00000617333.3:c.187dup ENSP00000482468.1:p.Val63GlyfsTer19
ENST00000617938.4:c.187dup ENSP00000481158.1:p.Val63GlyfsTer19
ENST00000621359.2:c.187dup ENSP00000481416.1:p.Val63GlyfsTer19
NM_000251.2:c.187dup , LRG_218t1:c.187dup NP_000242.1:p.Val63GlyfsTer19
NM_001258281.1:c.-12dup NP_001245210.1:n.-12dup
XM_005264332.2:c.187dup XP_005264389.2:p.Val63GlyfsTer19
XM_011532867.1:c.187dup XP_011531169.1:p.Val63GlyfsTer19
XR_939685.1:n.259dup
XM_005264332.4:c.187dup XP_005264389.2:p.Val63GlyfsTer19
XM_011532867.2:c.187dup XP_011531169.1:p.Val63GlyfsTer19
XR_001738747.2:n.249dup
XR_939685.2:n.249dup
NM_000251.3:c.187dup MANE Select NP_000242.1:p.Val63GlyfsTer19
Search 100 bp 5'
Search 100 bp 3'