Canonical Allele Identifier: CA2580067111

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1791621
• ClinVar RCV Id: RCV002430732 ; RCV003455474

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480697_47480699delinsA , CM000664.2:g.47480697_47480699delinsA	GRCh38
NC_000002.11:g.47707836_47707838delinsA , CM000664.1:g.47707836_47707838delinsA	GRCh37
NC_000002.10:g.47561340_47561342delinsA	NCBI36
NG_007110.2:g.82574_82576delinsA , LRG_218:g.82574_82576delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2460_2462delinsA	ENSP00000495641.2:p.Val821LeufsTer2
ENST00000233146.7:c.2460_2462delinsA MANE Select	ENSP00000233146.2:p.Val821LeufsTer2
ENST00000543555.6:c.2262_2264delinsA	ENSP00000442697.1:p.Val755LeufsTer2
ENST00000644092.1:c.*760_*762delinsA	ENSP00000496351.1:n.*760_*762delinsA
ENST00000644900.1:c.313_315delinsA
ENST00000645339.1:c.2460_2462delinsA	ENSP00000496441.1:p.Val821LeufsTer2
ENST00000645506.1:c.2460_2462delinsA	ENSP00000495455.1:p.Val821LeufsTer2
ENST00000646415.1:c.2460_2462delinsA	ENSP00000495543.1:p.Val821LeufsTer2
ENST00000233146.6:c.2460_2462delinsA	ENSP00000233146.2:p.Val821LeufsTer2
ENST00000406134.5:c.2460_2462delinsA	ENSP00000384199.1:p.Val821LeufsTer2
ENST00000543555.5:c.2262_2264delinsA	ENSP00000442697.1:p.Val755LeufsTer2
ENST00000610696.4:c.*856_*858delinsA	ENSP00000483159.1:n.*856_*858delinsA
ENST00000613514.4:c.*1000_*1002delinsA	ENSP00000484137.1:n.*1000_*1002delinsA
ENST00000617333.3:c.*1226_*1228delinsA	ENSP00000482468.1:n.*1226_*1228delinsA
ENST00000617938.4:c.*1432_*1434delinsA	ENSP00000481158.1:n.*1432_*1434delinsA
ENST00000621359.2:c.*26_*28delinsA	ENSP00000481416.1:n.*26_*28delinsA
NM_000251.2:c.2460_2462delinsA , LRG_218t1:c.2460_2462delinsA	NP_000242.1:p.Val821LeufsTer2
NM_001258281.1:c.2262_2264delinsA	NP_001245210.1:p.Val755LeufsTer2
XM_005264332.2:c.2460_2462delinsA	XP_005264389.2:p.Val821LeufsTer2
XM_011532867.1:c.2460_2462delinsA	XP_011531169.1:p.Val821LeufsTer2
XR_939685.1:n.2532_2534delinsA
XM_005264332.4:c.2460_2462delinsA	XP_005264389.2:p.Val821LeufsTer2
XM_011532867.2:c.2460_2462delinsA	XP_011531169.1:p.Val821LeufsTer2
XR_001738747.2:n.2522_2524delinsA
XR_939685.2:n.2522_2524delinsA
NM_000251.3:c.2460_2462delinsA MANE Select	NP_000242.1:p.Val821LeufsTer2