Canonical Allele Identifier: CA2580067218

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1787325
• ClinVar RCV Id: RCV002425476

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476546del , CM000664.2:g.47476546del	GRCh38
NC_000002.11:g.47703685del , CM000664.1:g.47703685del	GRCh37
NC_000002.10:g.47557189del	NCBI36
NG_007110.2:g.78423del , LRG_218:g.78423del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2185del	ENSP00000495641.2:p.Met729CysfsTer16
ENST00000233146.7:c.2185del MANE Select	ENSP00000233146.2:p.Met729CysfsTer16
ENST00000543555.6:c.1987del	ENSP00000442697.1:p.Met663CysfsTer16
ENST00000644092.1:c.*485del	ENSP00000496351.1:n.*485del
ENST00000644900.1:c.38del
ENST00000645339.1:c.2185del	ENSP00000496441.1:p.Met729CysfsTer16
ENST00000645506.1:c.2185del	ENSP00000495455.1:p.Met729CysfsTer16
ENST00000646415.1:c.2185del	ENSP00000495543.1:p.Met729CysfsTer16
ENST00000233146.6:c.2185del	ENSP00000233146.2:p.Met729CysfsTer16
ENST00000406134.5:c.2185del	ENSP00000384199.1:p.Met729CysfsTer16
ENST00000543555.5:c.1987del	ENSP00000442697.1:p.Met663CysfsTer16
ENST00000610696.4:c.*581del	ENSP00000483159.1:n.*581del
ENST00000613514.4:c.*725del	ENSP00000484137.1:n.*725del
ENST00000617333.3:c.*951del	ENSP00000482468.1:n.*951del
ENST00000617938.4:c.*1157del	ENSP00000481158.1:n.*1157del
ENST00000621359.2:c.2185del	ENSP00000481416.1:p.Met729CysfsTer16
NM_000251.2:c.2185del , LRG_218t1:c.2185del	NP_000242.1:p.Met729CysfsTer16
NM_001258281.1:c.1987del	NP_001245210.1:p.Met663CysfsTer16
XM_005264332.2:c.2185del	XP_005264389.2:p.Met729CysfsTer16
XM_011532867.1:c.2185del	XP_011531169.1:p.Met729CysfsTer16
XR_939685.1:n.2257del
XM_005264332.4:c.2185del	XP_005264389.2:p.Met729CysfsTer16
XM_011532867.2:c.2185del	XP_011531169.1:p.Met729CysfsTer16
XR_001738747.2:n.2247del
XR_939685.2:n.2247del
NM_000251.3:c.2185del MANE Select	NP_000242.1:p.Met729CysfsTer16