Canonical Allele Identifier: CA019250
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 90781
dbSNP Id: rs267607977

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47475036_47475037insA , CM000664.2:g.47475036_47475037insA GRCh38
NC_000002.11:g.47702175_47702176insA , CM000664.1:g.47702175_47702176insA GRCh37
NC_000002.10:g.47555679_47555680insA NCBI36
NG_007110.2:g.76913_76914insA , LRG_218:g.76913_76914insA

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.1771_1772insA ENSP00000495641.2:p.Pro591HisfsTer7
ENST00000233146.7:c.1771_1772insA MANE Select ENSP00000233146.2:p.Pro591HisfsTer7
ENST00000543555.6:c.1573_1574insA ENSP00000442697.1:p.Pro525HisfsTer7
ENST00000644092.1:c.*71_*72insA ENSP00000496351.1:n.*71_*72insA
ENST00000645339.1:c.1771_1772insA ENSP00000496441.1:p.Pro591HisfsTer7
ENST00000645506.1:c.1771_1772insA ENSP00000495455.1:p.Pro591HisfsTer7
ENST00000646415.1:c.1771_1772insA ENSP00000495543.1:p.Pro591HisfsTer7
ENST00000233146.6:c.1771_1772insA ENSP00000233146.2:p.Pro591HisfsTer7
ENST00000406134.5:c.1771_1772insA ENSP00000384199.1:p.Pro591HisfsTer7
ENST00000543555.5:c.1573_1574insA ENSP00000442697.1:p.Pro525HisfsTer7
ENST00000610696.4:c.*167_*168insA ENSP00000483159.1:n.*167_*168insA
ENST00000613514.4:c.*311_*312insA ENSP00000484137.1:n.*311_*312insA
ENST00000617333.3:c.*537_*538insA ENSP00000482468.1:n.*537_*538insA
ENST00000617938.4:c.*743_*744insA ENSP00000481158.1:n.*743_*744insA
ENST00000621359.2:c.1771_1772insA ENSP00000481416.1:p.Pro591HisfsTer7
NM_000251.2:c.1771_1772insA , LRG_218t1:c.1771_1772insA NP_000242.1:p.Pro591HisfsTer7
NM_001258281.1:c.1573_1574insA NP_001245210.1:p.Pro525HisfsTer7
XM_005264332.2:c.1771_1772insA XP_005264389.2:p.Pro591HisfsTer7
XM_011532867.1:c.1771_1772insA XP_011531169.1:p.Pro591HisfsTer7
XR_939685.1:n.1843_1844insA
XM_005264332.4:c.1771_1772insA XP_005264389.2:p.Pro591HisfsTer7
XM_011532867.2:c.1771_1772insA XP_011531169.1:p.Pro591HisfsTer7
XR_001738747.2:n.1833_1834insA
XR_939685.2:n.1833_1834insA
NM_000251.3:c.1771_1772insA MANE Select NP_000242.1:p.Pro591HisfsTer7