Canonical Allele Identifier: CA2580066961

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1790451
• ClinVar RCV Id: RCV002457904

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478442dup , CM000664.2:g.47478442dup	GRCh38
NC_000002.11:g.47705581dup , CM000664.1:g.47705581dup	GRCh37
NC_000002.10:g.47559085dup	NCBI36
NG_007110.2:g.80319dup , LRG_218:g.80319dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2381dup	ENSP00000495641.2:p.Pro795ThrfsTer4
ENST00000233146.7:c.2381dup MANE Select	ENSP00000233146.2:p.Pro795ThrfsTer4
ENST00000543555.6:c.2183dup	ENSP00000442697.1:p.Pro729ThrfsTer4
ENST00000644092.1:c.*681dup	ENSP00000496351.1:n.*681dup
ENST00000644900.1:c.234dup
ENST00000645339.1:c.2381dup	ENSP00000496441.1:p.Pro795ThrfsTer4
ENST00000645506.1:c.2381dup	ENSP00000495455.1:p.Pro795ThrfsTer4
ENST00000646415.1:c.2381dup	ENSP00000495543.1:p.Pro795ThrfsTer4
ENST00000233146.6:c.2381dup	ENSP00000233146.2:p.Pro795ThrfsTer4
ENST00000406134.5:c.2381dup	ENSP00000384199.1:p.Pro795ThrfsTer4
ENST00000543555.5:c.2183dup	ENSP00000442697.1:p.Pro729ThrfsTer4
ENST00000610696.4:c.*777dup	ENSP00000483159.1:n.*777dup
ENST00000613514.4:c.*921dup	ENSP00000484137.1:n.*921dup
ENST00000617333.3:c.*1147dup	ENSP00000482468.1:n.*1147dup
ENST00000617938.4:c.*1353dup	ENSP00000481158.1:n.*1353dup
ENST00000621359.2:c.2380dup	ENSP00000481416.1:p.Tyr794LeufsTer?
NM_000251.2:c.2381dup , LRG_218t1:c.2381dup	NP_000242.1:p.Pro795ThrfsTer4
NM_001258281.1:c.2183dup	NP_001245210.1:p.Pro729ThrfsTer4
XM_005264332.2:c.2381dup	XP_005264389.2:p.Pro795ThrfsTer4
XM_011532867.1:c.2381dup	XP_011531169.1:p.Pro795ThrfsTer4
XR_939685.1:n.2453dup
XM_005264332.4:c.2381dup	XP_005264389.2:p.Pro795ThrfsTer4
XM_011532867.2:c.2381dup	XP_011531169.1:p.Pro795ThrfsTer4
XR_001738747.2:n.2443dup
XR_939685.2:n.2443dup
NM_000251.3:c.2381dup MANE Select	NP_000242.1:p.Pro795ThrfsTer4