Canonical Allele Identifier: CA2658949724

Gene: MSH2

Linked Data

• gnomAD v4: 2-47482719-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482720dup , CM000664.2:g.47482720dup	GRCh38
NC_000002.11:g.47709859dup , CM000664.1:g.47709859dup	GRCh37
NC_000002.10:g.47563363dup	NCBI36
NG_007110.2:g.84597dup , LRG_218:g.84597dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2634+1849dup	ENSP00000495641.2:n.2634+1849dup
ENST00000233146.7:c.2635-59dup MANE Select	ENSP00000233146.2:n.2635-59dup
ENST00000543555.6:c.2437-59dup	ENSP00000442697.1:n.2437-59dup
ENST00000644092.1:c.*934+1849dup	ENSP00000496351.1:n.*934+1849dup
ENST00000644900.1:c.487+1849dup
ENST00000645339.1:c.2634+1849dup	ENSP00000496441.1:n.2634+1849dup
ENST00000645506.1:c.2634+1849dup	ENSP00000495455.1:n.2634+1849dup
ENST00000646415.1:c.2634+1849dup	ENSP00000495543.1:n.2634+1849dup
ENST00000233146.6:c.2635-59dup	ENSP00000233146.2:n.2635-59dup
ENST00000406134.5:c.2634+1849dup	ENSP00000384199.1:n.2634+1849dup
ENST00000461394.5:n.75+1849dup
ENST00000543555.5:c.2437-59dup	ENSP00000442697.1:n.2437-59dup
ENST00000610696.4:c.*1031-59dup	ENSP00000483159.1:n.*1031-59dup
ENST00000613514.4:c.*1175-59dup	ENSP00000484137.1:n.*1175-59dup
ENST00000617333.3:c.*1401-59dup	ENSP00000482468.1:n.*1401-59dup
ENST00000617938.4:c.*1607-59dup	ENSP00000481158.1:n.*1607-59dup
ENST00000621359.2:c.*201-59dup	ENSP00000481416.1:n.*201-59dup
NM_000251.2:c.2635-59dup , LRG_218t1:c.2635-59dup	NP_000242.1:n.2635-59dup
NM_001258281.1:c.2437-59dup	NP_001245210.1:n.2437-59dup
XM_005264332.2:c.2634+1849dup	XP_005264389.2:n.2634+1849dup
XM_011532867.1:c.2634+1849dup	XP_011531169.1:n.2634+1849dup
XR_939685.1:n.2706+1849dup
XM_005264332.4:c.2634+1849dup	XP_005264389.2:n.2634+1849dup
XM_011532867.2:c.2634+1849dup	XP_011531169.1:n.2634+1849dup
XR_001738747.2:n.2696+1849dup
XR_939685.2:n.2696+1849dup
NM_000251.3:c.2635-59dup MANE Select	NP_000242.1:n.2635-59dup