Canonical Allele Identifier: CA2580067029

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1790943
• ClinVar RCV Id: RCV002450365 ; RCV003455469

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478477dup , CM000664.2:g.47478477dup	GRCh38
NC_000002.11:g.47705616dup , CM000664.1:g.47705616dup	GRCh37
NC_000002.10:g.47559120dup	NCBI36
NG_007110.2:g.80354dup , LRG_218:g.80354dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2416dup	ENSP00000495641.2:p.Thr806AsnfsTer3
ENST00000233146.7:c.2416dup MANE Select	ENSP00000233146.2:p.Thr806AsnfsTer3
ENST00000543555.6:c.2218dup	ENSP00000442697.1:p.Thr740AsnfsTer3
ENST00000644092.1:c.*716dup	ENSP00000496351.1:n.*716dup
ENST00000644900.1:c.269dup
ENST00000645339.1:c.2416dup	ENSP00000496441.1:p.Thr806AsnfsTer3
ENST00000645506.1:c.2416dup	ENSP00000495455.1:p.Thr806AsnfsTer3
ENST00000646415.1:c.2416dup	ENSP00000495543.1:p.Thr806AsnfsTer3
ENST00000233146.6:c.2416dup	ENSP00000233146.2:p.Thr806AsnfsTer3
ENST00000406134.5:c.2416dup	ENSP00000384199.1:p.Thr806AsnfsTer3
ENST00000543555.5:c.2218dup	ENSP00000442697.1:p.Thr740AsnfsTer3
ENST00000610696.4:c.*812dup	ENSP00000483159.1:n.*812dup
ENST00000613514.4:c.*956dup	ENSP00000484137.1:n.*956dup
ENST00000617333.3:c.*1182dup	ENSP00000482468.1:n.*1182dup
ENST00000617938.4:c.*1388dup	ENSP00000481158.1:n.*1388dup
ENST00000621359.2:c.2415dup	ENSP00000481416.1:p.Pro806ThrfsTer?
NM_000251.2:c.2416dup , LRG_218t1:c.2416dup	NP_000242.1:p.Thr806AsnfsTer3
NM_001258281.1:c.2218dup	NP_001245210.1:p.Thr740AsnfsTer3
XM_005264332.2:c.2416dup	XP_005264389.2:p.Thr806AsnfsTer3
XM_011532867.1:c.2416dup	XP_011531169.1:p.Thr806AsnfsTer3
XR_939685.1:n.2488dup
XM_005264332.4:c.2416dup	XP_005264389.2:p.Thr806AsnfsTer3
XM_011532867.2:c.2416dup	XP_011531169.1:p.Thr806AsnfsTer3
XR_001738747.2:n.2478dup
XR_939685.2:n.2478dup
NM_000251.3:c.2416dup MANE Select	NP_000242.1:p.Thr806AsnfsTer3