Canonical Allele Identifier: CA2586969212
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47414308del , CM000664.2:g.47414308del GRCh38
NC_000002.11:g.47641447del , CM000664.1:g.47641447del GRCh37
NC_000002.10:g.47494951del NCBI36
NG_007110.2:g.16185del , LRG_218:g.16185del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.832del ENSP00000495641.2:p.Glu278AsnfsTer14
ENST00000233146.7:c.832del MANE Select ENSP00000233146.2:p.Glu278AsnfsTer14
ENST00000543555.6:c.634del ENSP00000442697.1:p.Glu212AsnfsTer14
ENST00000644092.1:c.832del ENSP00000496351.1:p.Glu278AsnfsTer14
ENST00000645339.1:c.832del ENSP00000496441.1:p.Glu278AsnfsTer14
ENST00000645506.1:c.832del ENSP00000495455.1:p.Glu278AsnfsTer14
ENST00000646415.1:c.832del ENSP00000495543.1:p.Glu278AsnfsTer14
ENST00000233146.6:c.832del ENSP00000233146.2:p.Glu278AsnfsTer14
ENST00000406134.5:c.832del ENSP00000384199.1:p.Glu278AsnfsTer14
ENST00000543555.5:c.634del ENSP00000442697.1:p.Glu212AsnfsTer14
ENST00000610696.4:c.832del ENSP00000483159.1:p.Glu278AsnfsTer14
ENST00000613514.4:c.832del ENSP00000484137.1:p.Glu278AsnfsTer14
ENST00000617333.3:c.832del ENSP00000482468.1:p.Glu278AsnfsTer14
ENST00000617938.4:c.832del ENSP00000481158.1:p.Glu278AsnfsTer14
ENST00000621359.2:c.832del ENSP00000481416.1:p.Glu278AsnfsTer14
NM_000251.2:c.832del , LRG_218t1:c.832del NP_000242.1:p.Glu278AsnfsTer14
NM_001258281.1:c.634del NP_001245210.1:p.Glu212AsnfsTer14
XM_005264332.2:c.832del XP_005264389.2:p.Glu278AsnfsTer14
XM_011532867.1:c.832del XP_011531169.1:p.Glu278AsnfsTer14
XR_939685.1:n.904del
XM_005264332.4:c.832del XP_005264389.2:p.Glu278AsnfsTer14
XM_011532867.2:c.832del XP_011531169.1:p.Glu278AsnfsTer14
XR_001738747.2:n.894del
XR_939685.2:n.894del
NM_000251.3:c.832del MANE Select NP_000242.1:p.Glu278AsnfsTer14