Canonical Allele Identifier: CA2580067174

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1785435
• ClinVar RCV Id: RCV002422184

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476435_47476437dup , CM000664.2:g.47476435_47476437dup	GRCh38
NC_000002.11:g.47703574_47703576dup , CM000664.1:g.47703574_47703576dup	GRCh37
NC_000002.10:g.47557078_47557080dup	NCBI36
NG_007110.2:g.78312_78314dup , LRG_218:g.78312_78314dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2074_2076dup	ENSP00000495641.2:p.Gly692_Cys693insGly
ENST00000233146.7:c.2074_2076dup MANE Select	ENSP00000233146.2:p.Gly692_Cys693insGly
ENST00000543555.6:c.1876_1878dup	ENSP00000442697.1:p.Gly626_Cys627insGly
ENST00000644092.1:c.*374_*376dup	ENSP00000496351.1:n.*374_*376dup
ENST00000645339.1:c.2074_2076dup	ENSP00000496441.1:p.Gly692_Cys693insGly
ENST00000645506.1:c.2074_2076dup	ENSP00000495455.1:p.Gly692_Cys693insGly
ENST00000646415.1:c.2074_2076dup	ENSP00000495543.1:p.Gly692_Cys693insGly
ENST00000233146.6:c.2074_2076dup	ENSP00000233146.2:p.Gly692_Cys693insGly
ENST00000406134.5:c.2074_2076dup	ENSP00000384199.1:p.Gly692_Cys693insGly
ENST00000543555.5:c.1876_1878dup	ENSP00000442697.1:p.Gly626_Cys627insGly
ENST00000610696.4:c.*470_*472dup	ENSP00000483159.1:n.*470_*472dup
ENST00000613514.4:c.*614_*616dup	ENSP00000484137.1:n.*614_*616dup
ENST00000617333.3:c.*840_*842dup	ENSP00000482468.1:n.*840_*842dup
ENST00000617938.4:c.*1046_*1048dup	ENSP00000481158.1:n.*1046_*1048dup
ENST00000621359.2:c.2074_2076dup	ENSP00000481416.1:p.Gly692_Cys693insGly
NM_000251.2:c.2074_2076dup , LRG_218t1:c.2074_2076dup	NP_000242.1:p.Gly692_Cys693insGly
NM_001258281.1:c.1876_1878dup	NP_001245210.1:p.Gly626_Cys627insGly
XM_005264332.2:c.2074_2076dup	XP_005264389.2:p.Gly692_Cys693insGly
XM_011532867.1:c.2074_2076dup	XP_011531169.1:p.Gly692_Cys693insGly
XR_939685.1:n.2146_2148dup
XM_005264332.4:c.2074_2076dup	XP_005264389.2:p.Gly692_Cys693insGly
XM_011532867.2:c.2074_2076dup	XP_011531169.1:p.Gly692_Cys693insGly
XR_001738747.2:n.2136_2138dup
XR_939685.2:n.2136_2138dup
NM_000251.3:c.2074_2076dup MANE Select	NP_000242.1:p.Gly692_Cys693insGly