Canonical Allele Identifier: CA2695200707

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2673475
• ClinVar RCV Id: RCV003450197

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475127_47475172del , CM000664.2:g.47475127_47475172del	GRCh38
NC_000002.11:g.47702266_47702311del , CM000664.1:g.47702266_47702311del	GRCh37
NC_000002.10:g.47555770_47555815del	NCBI36
NG_007110.2:g.77004_77049del , LRG_218:g.77004_77049del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1862_1907del	ENSP00000495641.2:p.Arg621HisfsTer?
ENST00000233146.7:c.1862_1907del MANE Select	ENSP00000233146.2:p.Arg621HisfsTer?
ENST00000543555.6:c.1664_1709del	ENSP00000442697.1:p.Arg555HisfsTer?
ENST00000644092.1:c.*162_*207del	ENSP00000496351.1:n.*162_*207del
ENST00000645339.1:c.1862_1907del	ENSP00000496441.1:p.Arg621HisfsTer?
ENST00000645506.1:c.1862_1907del	ENSP00000495455.1:p.Arg621HisfsTer?
ENST00000646415.1:c.1862_1907del	ENSP00000495543.1:p.Arg621HisfsTer?
ENST00000233146.6:c.1862_1907del	ENSP00000233146.2:p.Arg621HisfsTer?
ENST00000406134.5:c.1862_1907del	ENSP00000384199.1:p.Arg621HisfsTer?
ENST00000543555.5:c.1664_1709del	ENSP00000442697.1:p.Arg555HisfsTer?
ENST00000610696.4:c.*258_*303del	ENSP00000483159.1:n.*258_*303del
ENST00000613514.4:c.*402_*447del	ENSP00000484137.1:n.*402_*447del
ENST00000617333.3:c.*628_*673del	ENSP00000482468.1:n.*628_*673del
ENST00000617938.4:c.*834_*879del	ENSP00000481158.1:n.*834_*879del
ENST00000621359.2:c.1862_1907del	ENSP00000481416.1:p.Arg621HisfsTer?
NM_000251.2:c.1862_1907del , LRG_218t1:c.1862_1907del	NP_000242.1:p.Arg621HisfsTer?
NM_001258281.1:c.1664_1709del	NP_001245210.1:p.Arg555HisfsTer?
XM_005264332.2:c.1862_1907del	XP_005264389.2:p.Arg621HisfsTer?
XM_011532867.1:c.1862_1907del	XP_011531169.1:p.Arg621HisfsTer?
XR_939685.1:n.1934_1979del
XM_005264332.4:c.1862_1907del	XP_005264389.2:p.Arg621HisfsTer?
XM_011532867.2:c.1862_1907del	XP_011531169.1:p.Arg621HisfsTer?
XR_001738747.2:n.1924_1969del
XR_939685.2:n.1924_1969del
NM_000251.3:c.1862_1907del MANE Select	NP_000242.1:p.Arg621HisfsTer?