Canonical Allele Identifier: CA2586964843

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480708_47480721dup , CM000664.2:g.47480708_47480721dup	GRCh38
NC_000002.11:g.47707847_47707860dup , CM000664.1:g.47707847_47707860dup	GRCh37
NC_000002.10:g.47561351_47561364dup	NCBI36
NG_007110.2:g.82585_82598dup , LRG_218:g.82585_82598dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2471_2484dup	ENSP00000495641.2:p.His829LysfsTer17
ENST00000233146.7:c.2471_2484dup MANE Select	ENSP00000233146.2:p.His829LysfsTer17
ENST00000543555.6:c.2273_2286dup	ENSP00000442697.1:p.His763LysfsTer17
ENST00000644092.1:c.*771_*784dup	ENSP00000496351.1:n.*771_*784dup
ENST00000644900.1:c.324_337dup
ENST00000645339.1:c.2471_2484dup	ENSP00000496441.1:p.His829LysfsTer17
ENST00000645506.1:c.2471_2484dup	ENSP00000495455.1:p.His829LysfsTer17
ENST00000646415.1:c.2471_2484dup	ENSP00000495543.1:p.His829LysfsTer17
ENST00000233146.6:c.2471_2484dup	ENSP00000233146.2:p.His829LysfsTer17
ENST00000406134.5:c.2471_2484dup	ENSP00000384199.1:p.His829LysfsTer17
ENST00000543555.5:c.2273_2286dup	ENSP00000442697.1:p.His763LysfsTer17
ENST00000610696.4:c.*867_*880dup	ENSP00000483159.1:n.*867_*880dup
ENST00000613514.4:c.*1011_*1024dup	ENSP00000484137.1:n.*1011_*1024dup
ENST00000617333.3:c.*1237_*1250dup	ENSP00000482468.1:n.*1237_*1250dup
ENST00000617938.4:c.*1443_*1456dup	ENSP00000481158.1:n.*1443_*1456dup
ENST00000621359.2:c.*37_*50dup	ENSP00000481416.1:n.*37_*50dup
NM_000251.2:c.2471_2484dup , LRG_218t1:c.2471_2484dup	NP_000242.1:p.His829LysfsTer17
NM_001258281.1:c.2273_2286dup	NP_001245210.1:p.His763LysfsTer17
XM_005264332.2:c.2471_2484dup	XP_005264389.2:p.His829LysfsTer17
XM_011532867.1:c.2471_2484dup	XP_011531169.1:p.His829LysfsTer17
XR_939685.1:n.2543_2556dup
XM_005264332.4:c.2471_2484dup	XP_005264389.2:p.His829LysfsTer17
XM_011532867.2:c.2471_2484dup	XP_011531169.1:p.His829LysfsTer17
XR_001738747.2:n.2533_2546dup
XR_939685.2:n.2533_2546dup
NM_000251.3:c.2471_2484dup MANE Select	NP_000242.1:p.His829LysfsTer17