Canonical Allele Identifier: CA2580066914

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1779579
• ClinVar RCV Id: RCV002407607

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475026_47475030dup , CM000664.2:g.47475026_47475030dup	GRCh38
NC_000002.11:g.47702165_47702169dup , CM000664.1:g.47702165_47702169dup	GRCh37
NC_000002.10:g.47555669_47555673dup	NCBI36
NG_007110.2:g.76903_76907dup , LRG_218:g.76903_76907dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1761_1765dup	ENSP00000495641.2:p.Val589AlafsTer3
ENST00000233146.7:c.1761_1765dup MANE Select	ENSP00000233146.2:p.Val589AlafsTer3
ENST00000543555.6:c.1563_1567dup	ENSP00000442697.1:p.Val523AlafsTer3
ENST00000644092.1:c.*61_*65dup	ENSP00000496351.1:n.*61_*65dup
ENST00000645339.1:c.1761_1765dup	ENSP00000496441.1:p.Val589AlafsTer3
ENST00000645506.1:c.1761_1765dup	ENSP00000495455.1:p.Val589AlafsTer3
ENST00000646415.1:c.1761_1765dup	ENSP00000495543.1:p.Val589AlafsTer3
ENST00000233146.6:c.1761_1765dup	ENSP00000233146.2:p.Val589AlafsTer3
ENST00000406134.5:c.1761_1765dup	ENSP00000384199.1:p.Val589AlafsTer3
ENST00000543555.5:c.1563_1567dup	ENSP00000442697.1:p.Val523AlafsTer3
ENST00000610696.4:c.*157_*161dup	ENSP00000483159.1:n.*157_*161dup
ENST00000613514.4:c.*301_*305dup	ENSP00000484137.1:n.*301_*305dup
ENST00000617333.3:c.*527_*531dup	ENSP00000482468.1:n.*527_*531dup
ENST00000617938.4:c.*733_*737dup	ENSP00000481158.1:n.*733_*737dup
ENST00000621359.2:c.1761_1765dup	ENSP00000481416.1:p.Val589AlafsTer3
NM_000251.2:c.1761_1765dup , LRG_218t1:c.1761_1765dup	NP_000242.1:p.Val589AlafsTer3
NM_001258281.1:c.1563_1567dup	NP_001245210.1:p.Val523AlafsTer3
XM_005264332.2:c.1761_1765dup	XP_005264389.2:p.Val589AlafsTer3
XM_011532867.1:c.1761_1765dup	XP_011531169.1:p.Val589AlafsTer3
XR_939685.1:n.1833_1837dup
XM_005264332.4:c.1761_1765dup	XP_005264389.2:p.Val589AlafsTer3
XM_011532867.2:c.1761_1765dup	XP_011531169.1:p.Val589AlafsTer3
XR_001738747.2:n.1823_1827dup
XR_939685.2:n.1823_1827dup
NM_000251.3:c.1761_1765dup MANE Select	NP_000242.1:p.Val589AlafsTer3