Canonical Allele Identifier: CA2495830283
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47408509_47408510delinsCT , CM000664.2:g.47408509_47408510delinsCT GRCh38
NC_000002.11:g.47635648_47635649delinsCT , CM000664.1:g.47635648_47635649delinsCT GRCh37
NC_000002.10:g.47489152_47489153delinsCT NCBI36
NG_007110.2:g.10386_10387delinsCT , LRG_218:g.10386_10387delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.320_321delinsCT ENSP00000495641.2:p.Ala107=
ENST00000233146.7:c.320_321delinsCT MANE Select ENSP00000233146.2:p.Ala107=
ENST00000543555.6:c.122_123delinsCT ENSP00000442697.1:p.Ala41=
ENST00000644092.1:c.320_321delinsCT ENSP00000496351.1:p.Ala107=
ENST00000645339.1:c.320_321delinsCT ENSP00000496441.1:p.Ala107=
ENST00000645506.1:c.320_321delinsCT ENSP00000495455.1:p.Ala107=
ENST00000646415.1:c.320_321delinsCT ENSP00000495543.1:p.Ala107=
ENST00000233146.6:c.320_321delinsCT ENSP00000233146.2:p.Ala107=
ENST00000406134.5:c.320_321delinsCT ENSP00000384199.1:p.Ala107=
ENST00000454849.5:c.122_123delinsCT ENSP00000411482.1:p.Ala41=
ENST00000543555.5:c.122_123delinsCT ENSP00000442697.1:p.Ala41=
ENST00000610696.4:c.320_321delinsCT ENSP00000483159.1:p.Ala107=
ENST00000613514.4:c.320_321delinsCT ENSP00000484137.1:p.Ala107=
ENST00000617333.3:c.320_321delinsCT ENSP00000482468.1:p.Ala107=
ENST00000617938.4:c.320_321delinsCT ENSP00000481158.1:p.Ala107=
ENST00000621359.2:c.320_321delinsCT ENSP00000481416.1:p.Ala107=
NM_000251.2:c.320_321delinsCT , LRG_218t1:c.320_321delinsCT NP_000242.1:p.Ala107=
NM_001258281.1:c.122_123delinsCT NP_001245210.1:p.Ala41=
XM_005264332.2:c.320_321delinsCT XP_005264389.2:p.Ala107=
XM_011532867.1:c.320_321delinsCT XP_011531169.1:p.Ala107=
XR_939685.1:n.392_393delinsCT
XM_005264332.4:c.320_321delinsCT XP_005264389.2:p.Ala107=
XM_011532867.2:c.320_321delinsCT XP_011531169.1:p.Ala107=
XR_001738747.2:n.382_383delinsCT
XR_939685.2:n.382_383delinsCT
NM_000251.3:c.320_321delinsCT MANE Select NP_000242.1:p.Ala107=