Canonical Allele Identifier: CA2695200497

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2673401
• ClinVar RCV Id: RCV003450124

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478495dup , CM000664.2:g.47478495dup	GRCh38
NC_000002.11:g.47705634dup , CM000664.1:g.47705634dup	GRCh37
NC_000002.10:g.47559138dup	NCBI36
NG_007110.2:g.80372dup , LRG_218:g.80372dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2434dup	ENSP00000495641.2:p.Thr812AsnfsTer12
ENST00000233146.7:c.2434dup MANE Select	ENSP00000233146.2:p.Thr812AsnfsTer12
ENST00000543555.6:c.2236dup	ENSP00000442697.1:p.Thr746AsnfsTer12
ENST00000644092.1:c.*734dup	ENSP00000496351.1:n.*734dup
ENST00000644900.1:c.287dup
ENST00000645339.1:c.2434dup	ENSP00000496441.1:p.Thr812AsnfsTer12
ENST00000645506.1:c.2434dup	ENSP00000495455.1:p.Thr812AsnfsTer12
ENST00000646415.1:c.2434dup	ENSP00000495543.1:p.Thr812AsnfsTer12
ENST00000233146.6:c.2434dup	ENSP00000233146.2:p.Thr812AsnfsTer12
ENST00000406134.5:c.2434dup	ENSP00000384199.1:p.Thr812AsnfsTer12
ENST00000543555.5:c.2236dup	ENSP00000442697.1:p.Thr746AsnfsTer12
ENST00000610696.4:c.*830dup	ENSP00000483159.1:n.*830dup
ENST00000613514.4:c.*974dup	ENSP00000484137.1:n.*974dup
ENST00000617333.3:c.*1200dup	ENSP00000482468.1:n.*1200dup
ENST00000617938.4:c.*1406dup	ENSP00000481158.1:n.*1406dup
ENST00000621359.2:c.2433dup	ENSP00000481416.1:n.2433dup
NM_000251.2:c.2434dup , LRG_218t1:c.2434dup	NP_000242.1:p.Thr812AsnfsTer12
NM_001258281.1:c.2236dup	NP_001245210.1:p.Thr746AsnfsTer12
XM_005264332.2:c.2434dup	XP_005264389.2:p.Thr812AsnfsTer12
XM_011532867.1:c.2434dup	XP_011531169.1:p.Thr812AsnfsTer12
XR_939685.1:n.2506dup
XM_005264332.4:c.2434dup	XP_005264389.2:p.Thr812AsnfsTer12
XM_011532867.2:c.2434dup	XP_011531169.1:p.Thr812AsnfsTer12
XR_001738747.2:n.2496dup
XR_939685.2:n.2496dup
NM_000251.3:c.2434dup MANE Select	NP_000242.1:p.Thr812AsnfsTer12