Canonical Allele Identifier: CA020296
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 90934
ClinVar RCV Id: RCV000076436
dbSNP Id: rs63751156
MyVariant Identifiers: chr2:g.47705428_47705431del (hg19) chr2:g.47478289_47478292del (hg38)
PubMed: PMID:12362848 PMID:17312306
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47478289_47478292del , CM000664.2:g.47478289_47478292del GRCh38
NC_000002.11:g.47705428_47705431del , CM000664.1:g.47705428_47705431del GRCh37
NC_000002.10:g.47558932_47558935del NCBI36
NG_007110.2:g.80166_80169del , LRG_218:g.80166_80169del

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.2228_2231del ENSP00000495641.2:p.Ser743Ter
ENST00000233146.7:c.2228_2231del MANE Select ENSP00000233146.2:p.Ser743Ter
ENST00000543555.6:c.2030_2033del ENSP00000442697.1:p.Ser677Ter
ENST00000644092.1:c.*528_*531del ENSP00000496351.1:n.*528_*531del
ENST00000644900.1:c.81_84del
ENST00000645339.1:c.2228_2231del ENSP00000496441.1:p.Ser743Ter
ENST00000645506.1:c.2228_2231del ENSP00000495455.1:p.Ser743Ter
ENST00000646415.1:c.2228_2231del ENSP00000495543.1:p.Ser743Ter
ENST00000233146.6:c.2228_2231del ENSP00000233146.2:p.Ser743Ter
ENST00000406134.5:c.2228_2231del ENSP00000384199.1:p.Ser743Ter
ENST00000543555.5:c.2030_2033del ENSP00000442697.1:p.Ser677Ter
ENST00000610696.4:c.*624_*627del ENSP00000483159.1:n.*624_*627del
ENST00000613514.4:c.*768_*771del ENSP00000484137.1:n.*768_*771del
ENST00000617333.3:c.*994_*997del ENSP00000482468.1:n.*994_*997del
ENST00000617938.4:c.*1200_*1203del ENSP00000481158.1:n.*1200_*1203del
ENST00000621359.2:c.2228_2231del ENSP00000481416.1:p.Ser743Ter
NM_000251.2:c.2228_2231del , LRG_218t1:c.2228_2231del NP_000242.1:p.Ser743Ter
NM_001258281.1:c.2030_2033del NP_001245210.1:p.Ser677Ter
XM_005264332.2:c.2228_2231del XP_005264389.2:p.Ser743Ter
XM_011532867.1:c.2228_2231del XP_011531169.1:p.Ser743Ter
XR_939685.1:n.2300_2303del
XM_005264332.4:c.2228_2231del XP_005264389.2:p.Ser743Ter
XM_011532867.2:c.2228_2231del XP_011531169.1:p.Ser743Ter
XR_001738747.2:n.2290_2293del
XR_939685.2:n.2290_2293del
NM_000251.3:c.2228_2231del MANE Select NP_000242.1:p.Ser743Ter
Search 100 bp 5'
Search 100 bp 3'