Canonical Allele Identifier: CA2740097911

Gene: MSH2

Linked Data

• ClinVar Variation Id: 3066122
• ClinVar RCV Id: RCV003991126

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480732_47480733dup , CM000664.2:g.47480732_47480733dup	GRCh38
NC_000002.11:g.47707871_47707872dup , CM000664.1:g.47707871_47707872dup	GRCh37
NC_000002.10:g.47561375_47561376dup	NCBI36
NG_007110.2:g.82609_82610dup , LRG_218:g.82609_82610dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2495_2496dup	ENSP00000495641.2:p.Leu833SerfsTer9
ENST00000233146.7:c.2495_2496dup MANE Select	ENSP00000233146.2:p.Leu833SerfsTer9
ENST00000543555.6:c.2297_2298dup	ENSP00000442697.1:p.Leu767SerfsTer9
ENST00000644092.1:c.*795_*796dup	ENSP00000496351.1:n.*795_*796dup
ENST00000644900.1:c.348_349dup
ENST00000645339.1:c.2495_2496dup	ENSP00000496441.1:p.Leu833SerfsTer9
ENST00000645506.1:c.2495_2496dup	ENSP00000495455.1:p.Leu833SerfsTer9
ENST00000646415.1:c.2495_2496dup	ENSP00000495543.1:p.Leu833SerfsTer9
ENST00000233146.6:c.2495_2496dup	ENSP00000233146.2:p.Leu833SerfsTer9
ENST00000406134.5:c.2495_2496dup	ENSP00000384199.1:p.Leu833SerfsTer9
ENST00000543555.5:c.2297_2298dup	ENSP00000442697.1:p.Leu767SerfsTer9
ENST00000610696.4:c.*891_*892dup	ENSP00000483159.1:n.*891_*892dup
ENST00000613514.4:c.*1035_*1036dup	ENSP00000484137.1:n.*1035_*1036dup
ENST00000617333.3:c.*1261_*1262dup	ENSP00000482468.1:n.*1261_*1262dup
ENST00000617938.4:c.*1467_*1468dup	ENSP00000481158.1:n.*1467_*1468dup
ENST00000621359.2:c.*61_*62dup	ENSP00000481416.1:n.*61_*62dup
NM_000251.2:c.2495_2496dup , LRG_218t1:c.2495_2496dup	NP_000242.1:p.Leu833SerfsTer9
NM_001258281.1:c.2297_2298dup	NP_001245210.1:p.Leu767SerfsTer9
XM_005264332.2:c.2495_2496dup	XP_005264389.2:p.Leu833SerfsTer9
XM_011532867.1:c.2495_2496dup	XP_011531169.1:p.Leu833SerfsTer9
XR_939685.1:n.2567_2568dup
XM_005264332.4:c.2495_2496dup	XP_005264389.2:p.Leu833SerfsTer9
XM_011532867.2:c.2495_2496dup	XP_011531169.1:p.Leu833SerfsTer9
XR_001738747.2:n.2557_2558dup
XR_939685.2:n.2557_2558dup
NM_000251.3:c.2495_2496dup MANE Select	NP_000242.1:p.Leu833SerfsTer9