Canonical Allele Identifier: CA2495877280
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47482780_47482797delinsAAGGTGAAAAAATTATTC , CM000664.2:g.47482780_47482797delinsAAGGTGAAAAAATTATTC GRCh38
NC_000002.11:g.47709919_47709936delinsAAGGTGAAAAAATTATTC , CM000664.1:g.47709919_47709936delinsAAGGTGAAAAAATTATTC GRCh37
NC_000002.10:g.47563423_47563440delinsAAGGTGAAAAAATTATTC NCBI36
NG_007110.2:g.84657_84674delinsAAGGTGAAAAAATTATTC , LRG_218:g.84657_84674delinsAAGGTGAAAAAATTATTC

Transcript Alleles

HGVS Amino-acid change
ENST00000233146.7:c.2636_2653delinsAAGGTGAAAAAATTATTC MANE Select ENSP00000233146.2:p.Gln879=
ENST00000543555.6:c.2438_2455delinsAAGGTGAAAAAATTATTC ENSP00000442697.1:p.Gln813=
ENST00000644092.1:c.*934+1909_*934+1926delinsAAGGTGAAAAAATTATTC ENSP00000496351.1:p.=
ENST00000644900.1:n.487+1909_487+1926delinsAAGGTGAAAAAATTATTC
ENST00000645339.1:c.2634+1909_2634+1926delinsAAGGTGAAAAAATTATTC ENSP00000496441.1:p.=
ENST00000645506.1:c.2634+1909_2634+1926delinsAAGGTGAAAAAATTATTC ENSP00000495455.1:p.=
ENST00000646415.1:c.2634+1909_2634+1926delinsAAGGTGAAAAAATTATTC ENSP00000495543.1:p.=
ENST00000233146.6:c.2636_2653delinsAAGGTGAAAAAATTATTC ENSP00000233146.2:p.Gln879=
ENST00000406134.5:c.2634+1909_2634+1926delinsAAGGTGAAAAAATTATTC ENSP00000384199.1:p.=
ENST00000461394.5:n.75+1909_75+1926delinsAAGGTGAAAAAATTATTC
ENST00000543555.5:c.2438_2455delinsAAGGTGAAAAAATTATTC ENSP00000442697.1:p.Gln813=
ENST00000610696.4:c.*1032_*1049delinsAAGGTGAAAAAATTATTC ENSP00000483159.1:p.=
ENST00000613514.4:c.*1176_*1193delinsAAGGTGAAAAAATTATTC ENSP00000484137.1:p.=
ENST00000617333.3:c.*1402_*1419delinsAAGGTGAAAAAATTATTC ENSP00000482468.1:p.=
ENST00000617938.4:c.*1608_*1625delinsAAGGTGAAAAAATTATTC ENSP00000481158.1:p.=
ENST00000621359.2:c.*202_*219delinsAAGGTGAAAAAATTATTC ENSP00000481416.1:p.=
NM_000251.2:c.2636_2653delinsAAGGTGAAAAAATTATTC , LRG_218t1:c.2636_2653delinsAAGGTGAAAAAATTATTC NP_000242.1:p.Gln879=
NM_001258281.1:c.2438_2455delinsAAGGTGAAAAAATTATTC NP_001245210.1:p.Gln813=
XM_005264332.2:c.2634+1909_2634+1926delinsAAGGTGAAAAAATTATTC XP_005264389.2:p.=
XM_011532867.1:c.2634+1909_2634+1926delinsAAGGTGAAAAAATTATTC XP_011531169.1:p.=
XR_939685.1:n.2706+1909_2706+1926delinsAAGGTGAAAAAATTATTC
XM_005264332.4:c.2634+1909_2634+1926delinsAAGGTGAAAAAATTATTC XP_005264389.2:p.=
XM_011532867.2:c.2634+1909_2634+1926delinsAAGGTGAAAAAATTATTC XP_011531169.1:p.=
XR_001738747.2:n.2696+1909_2696+1926delinsAAGGTGAAAAAATTATTC
XR_939685.2:n.2696+1909_2696+1926delinsAAGGTGAAAAAATTATTC
NM_000251.3:c.2636_2653delinsAAGGTGAAAAAATTATTC MANE Select NP_000242.1:p.Gln879=