Canonical Allele Identifier: CA46700639

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1783845
• ClinVar RCV Id: RCV002423717 ; RCV003454312
• dbSNP Id: rs63751055
• PubMed: PMID:8690195

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475248dup , CM000664.2:g.47475248dup	GRCh38
NC_000002.11:g.47702387dup , CM000664.1:g.47702387dup	GRCh37
NC_000002.10:g.47555891dup	NCBI36
NG_007110.2:g.77125dup , LRG_218:g.77125dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1983dup	ENSP00000495641.2:p.Gln662ThrfsTer14
ENST00000233146.7:c.1983dup MANE Select	ENSP00000233146.2:p.Gln662ThrfsTer14
ENST00000543555.6:c.1785dup	ENSP00000442697.1:p.Gln596ThrfsTer14
ENST00000644092.1:c.*283dup	ENSP00000496351.1:n.*283dup
ENST00000645339.1:c.1983dup	ENSP00000496441.1:p.Gln662ThrfsTer14
ENST00000645506.1:c.1983dup	ENSP00000495455.1:p.Gln662ThrfsTer14
ENST00000646415.1:c.1983dup	ENSP00000495543.1:p.Gln662ThrfsTer14
ENST00000233146.6:c.1983dup	ENSP00000233146.2:p.Gln662ThrfsTer14
ENST00000406134.5:c.1983dup	ENSP00000384199.1:p.Gln662ThrfsTer14
ENST00000543555.5:c.1785dup	ENSP00000442697.1:p.Gln596ThrfsTer14
ENST00000610696.4:c.*379dup	ENSP00000483159.1:n.*379dup
ENST00000613514.4:c.*523dup	ENSP00000484137.1:n.*523dup
ENST00000617333.3:c.*749dup	ENSP00000482468.1:n.*749dup
ENST00000617938.4:c.*955dup	ENSP00000481158.1:n.*955dup
ENST00000621359.2:c.1983dup	ENSP00000481416.1:p.Gln662ThrfsTer14
NM_000251.2:c.1983dup , LRG_218t1:c.1983dup	NP_000242.1:p.Gln662ThrfsTer14
NM_001258281.1:c.1785dup	NP_001245210.1:p.Gln596ThrfsTer14
XM_005264332.2:c.1983dup	XP_005264389.2:p.Gln662ThrfsTer14
XM_011532867.1:c.1983dup	XP_011531169.1:p.Gln662ThrfsTer14
XR_939685.1:n.2055dup
XM_005264332.4:c.1983dup	XP_005264389.2:p.Gln662ThrfsTer14
XM_011532867.2:c.1983dup	XP_011531169.1:p.Gln662ThrfsTer14
XR_001738747.2:n.2045dup
XR_939685.2:n.2045dup
NM_000251.3:c.1983dup MANE Select	NP_000242.1:p.Gln662ThrfsTer14