Canonical Allele Identifier: CA2586964867

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476481_47476483delinsCGGGCTAAGAAGTG , CM000664.2:g.47476481_47476483delinsCGGGCTAAGAAGTG	GRCh38
NC_000002.11:g.47703620_47703622delinsCGGGCTAAGAAGTG , CM000664.1:g.47703620_47703622delinsCGGGCTAAGAAGTG	GRCh37
NC_000002.10:g.47557124_47557126delinsCGGGCTAAGAAGTG	NCBI36
NG_007110.2:g.78358_78360delinsCGGGCTAAGAAGTG , LRG_218:g.78358_78360delinsCGGGCTAAGAAGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2120_2122delinsCGGGCTAAGAAGTG	ENSP00000495641.2:p.Cys707SerfsTer3
ENST00000233146.7:c.2120_2122delinsCGGGCTAAGAAGTG MANE Select	ENSP00000233146.2:p.Cys707SerfsTer3
ENST00000543555.6:c.1922_1924delinsCGGGCTAAGAAGTG	ENSP00000442697.1:p.Cys641SerfsTer3
ENST00000644092.1:c.*420_*422delinsCGGGCTAAGAAGTG	ENSP00000496351.1:n.*420_*422delinsCGGGCTAAGAAGTG
ENST00000645339.1:c.2120_2122delinsCGGGCTAAGAAGTG	ENSP00000496441.1:p.Cys707SerfsTer3
ENST00000645506.1:c.2120_2122delinsCGGGCTAAGAAGTG	ENSP00000495455.1:p.Cys707SerfsTer3
ENST00000646415.1:c.2120_2122delinsCGGGCTAAGAAGTG	ENSP00000495543.1:p.Cys707SerfsTer3
ENST00000233146.6:c.2120_2122delinsCGGGCTAAGAAGTG	ENSP00000233146.2:p.Cys707SerfsTer3
ENST00000406134.5:c.2120_2122delinsCGGGCTAAGAAGTG	ENSP00000384199.1:p.Cys707SerfsTer3
ENST00000543555.5:c.1922_1924delinsCGGGCTAAGAAGTG	ENSP00000442697.1:p.Cys641SerfsTer3
ENST00000610696.4:c.*516_*518delinsCGGGCTAAGAAGTG	ENSP00000483159.1:n.*516_*518delinsCGGGCTAAGAAGTG
ENST00000613514.4:c.*660_*662delinsCGGGCTAAGAAGTG	ENSP00000484137.1:n.*660_*662delinsCGGGCTAAGAAGTG
ENST00000617333.3:c.*886_*888delinsCGGGCTAAGAAGTG	ENSP00000482468.1:n.*886_*888delinsCGGGCTAAGAAGTG
ENST00000617938.4:c.*1092_*1094delinsCGGGCTAAGAAGTG	ENSP00000481158.1:n.*1092_*1094delinsCGGGCTAAGAAGTG
ENST00000621359.2:c.2120_2122delinsCGGGCTAAGAAGTG	ENSP00000481416.1:p.Cys707SerfsTer3
NM_000251.2:c.2120_2122delinsCGGGCTAAGAAGTG , LRG_218t1:c.2120_2122delinsCGGGCTAAGAAGTG	NP_000242.1:p.Cys707SerfsTer3
NM_001258281.1:c.1922_1924delinsCGGGCTAAGAAGTG	NP_001245210.1:p.Cys641SerfsTer3
XM_005264332.2:c.2120_2122delinsCGGGCTAAGAAGTG	XP_005264389.2:p.Cys707SerfsTer3
XM_011532867.1:c.2120_2122delinsCGGGCTAAGAAGTG	XP_011531169.1:p.Cys707SerfsTer3
XR_939685.1:n.2192_2194delinsCGGGCTAAGAAGTG
XM_005264332.4:c.2120_2122delinsCGGGCTAAGAAGTG	XP_005264389.2:p.Cys707SerfsTer3
XM_011532867.2:c.2120_2122delinsCGGGCTAAGAAGTG	XP_011531169.1:p.Cys707SerfsTer3
XR_001738747.2:n.2182_2184delinsCGGGCTAAGAAGTG
XR_939685.2:n.2182_2184delinsCGGGCTAAGAAGTG
NM_000251.3:c.2120_2122delinsCGGGCTAAGAAGTG MANE Select	NP_000242.1:p.Cys707SerfsTer3