Canonical Allele Identifier: CA2495872523
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47475185_47475187delinsTTG , CM000664.2:g.47475185_47475187delinsTTG GRCh38
NC_000002.11:g.47702324_47702326delinsTTG , CM000664.1:g.47702324_47702326delinsTTG GRCh37
NC_000002.10:g.47555828_47555830delinsTTG NCBI36
NG_007110.2:g.77062_77064delinsTTG , LRG_218:g.77062_77064delinsTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1920_1922delinsTTG ENSP00000495641.2:p.Ala640=
ENST00000233146.7:c.1920_1922delinsTTG MANE Select ENSP00000233146.2:p.Ala640=
ENST00000543555.6:c.1722_1724delinsTTG ENSP00000442697.1:p.Ala574=
ENST00000644092.1:c.*220_*222delinsTTG ENSP00000496351.1:n.*220_*222delinsTTG
ENST00000645339.1:c.1920_1922delinsTTG ENSP00000496441.1:p.Ala640=
ENST00000645506.1:c.1920_1922delinsTTG ENSP00000495455.1:p.Ala640=
ENST00000646415.1:c.1920_1922delinsTTG ENSP00000495543.1:p.Ala640=
ENST00000233146.6:c.1920_1922delinsTTG ENSP00000233146.2:p.Ala640=
ENST00000406134.5:c.1920_1922delinsTTG ENSP00000384199.1:p.Ala640=
ENST00000543555.5:c.1722_1724delinsTTG ENSP00000442697.1:p.Ala574=
ENST00000610696.4:c.*316_*318delinsTTG ENSP00000483159.1:n.*316_*318delinsTTG
ENST00000613514.4:c.*460_*462delinsTTG ENSP00000484137.1:n.*460_*462delinsTTG
ENST00000617333.3:c.*686_*688delinsTTG ENSP00000482468.1:n.*686_*688delinsTTG
ENST00000617938.4:c.*892_*894delinsTTG ENSP00000481158.1:n.*892_*894delinsTTG
ENST00000621359.2:c.1920_1922delinsTTG ENSP00000481416.1:p.Ala640=
NM_000251.2:c.1920_1922delinsTTG , LRG_218t1:c.1920_1922delinsTTG NP_000242.1:p.Ala640=
NM_001258281.1:c.1722_1724delinsTTG NP_001245210.1:p.Ala574=
XM_005264332.2:c.1920_1922delinsTTG XP_005264389.2:p.Ala640=
XM_011532867.1:c.1920_1922delinsTTG XP_011531169.1:p.Ala640=
XR_939685.1:n.1992_1994delinsTTG
XM_005264332.4:c.1920_1922delinsTTG XP_005264389.2:p.Ala640=
XM_011532867.2:c.1920_1922delinsTTG XP_011531169.1:p.Ala640=
XR_001738747.2:n.1982_1984delinsTTG
XR_939685.2:n.1982_1984delinsTTG
NM_000251.3:c.1920_1922delinsTTG MANE Select NP_000242.1:p.Ala640=