Canonical Allele Identifier: CA2495867290
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47466713_47466714delinsCT , CM000664.2:g.47466713_47466714delinsCT GRCh38
NC_000002.11:g.47693852_47693853delinsCT , CM000664.1:g.47693852_47693853delinsCT GRCh37
NC_000002.10:g.47547356_47547357delinsCT NCBI36
NG_007110.2:g.68590_68591delinsCT , LRG_218:g.68590_68591delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.1566_1567delinsCT ENSP00000495641.2:p.Tyr522=
ENST00000233146.7:c.1566_1567delinsCT MANE Select ENSP00000233146.2:p.Tyr522=
ENST00000543555.6:c.1368_1369delinsCT ENSP00000442697.1:p.Tyr456=
ENST00000644092.1:c.1566_1567delinsCT ENSP00000496351.1:p.Tyr522=
ENST00000645339.1:c.1566_1567delinsCT ENSP00000496441.1:p.Tyr522=
ENST00000645506.1:c.1566_1567delinsCT ENSP00000495455.1:p.Tyr522=
ENST00000646415.1:c.1566_1567delinsCT ENSP00000495543.1:p.Tyr522=
ENST00000233146.6:c.1566_1567delinsCT ENSP00000233146.2:p.Tyr522=
ENST00000406134.5:c.1566_1567delinsCT ENSP00000384199.1:p.Tyr522=
ENST00000543555.5:c.1368_1369delinsCT ENSP00000442697.1:p.Tyr456=
ENST00000610696.4:c.1566_1567delinsCT ENSP00000483159.1:p.Tyr522=
ENST00000613514.4:c.*106_*107delinsCT ENSP00000484137.1:n.*106_*107delinsCT
ENST00000617333.3:c.*332_*333delinsCT ENSP00000482468.1:n.*332_*333delinsCT
ENST00000617938.4:c.*538_*539delinsCT ENSP00000481158.1:n.*538_*539delinsCT
ENST00000621359.2:c.1566_1567delinsCT ENSP00000481416.1:p.Tyr522=
NM_000251.2:c.1566_1567delinsCT , LRG_218t1:c.1566_1567delinsCT NP_000242.1:p.Tyr522=
NM_001258281.1:c.1368_1369delinsCT NP_001245210.1:p.Tyr456=
XM_005264332.2:c.1566_1567delinsCT XP_005264389.2:p.Tyr522=
XM_011532867.1:c.1566_1567delinsCT XP_011531169.1:p.Tyr522=
XR_939685.1:n.1638_1639delinsCT
XM_005264332.4:c.1566_1567delinsCT XP_005264389.2:p.Tyr522=
XM_011532867.2:c.1566_1567delinsCT XP_011531169.1:p.Tyr522=
XR_001738747.2:n.1628_1629delinsCT
XR_939685.2:n.1628_1629delinsCT
NM_000251.3:c.1566_1567delinsCT MANE Select NP_000242.1:p.Tyr522=