Canonical Allele Identifier: CA645369201

Gene: MSH2

Linked Data

• ClinVar Variation Id: 428488
• ClinVar RCV Id: RCV001856946 ; RCV003449356
• dbSNP Id: rs1114167832
• MyVariant Identifiers: chr2:g.47705581_47705585dup (hg19) ; chr2:g.47478442_47478446dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478442_47478446dup , CM000664.2:g.47478442_47478446dup	GRCh38
NC_000002.11:g.47705581_47705585dup , CM000664.1:g.47705581_47705585dup	GRCh37
NC_000002.10:g.47559085_47559089dup	NCBI36
NG_007110.2:g.80319_80323dup , LRG_218:g.80319_80323dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2381_2385dup	ENSP00000495641.2:p.Thr796TyrfsTer18
ENST00000233146.7:c.2381_2385dup MANE Select	ENSP00000233146.2:p.Thr796TyrfsTer18
ENST00000543555.6:c.2183_2187dup	ENSP00000442697.1:p.Thr730TyrfsTer18
ENST00000644092.1:c.*681_*685dup	ENSP00000496351.1:n.*681_*685dup
ENST00000644900.1:c.234_238dup
ENST00000645339.1:c.2381_2385dup	ENSP00000496441.1:p.Thr796TyrfsTer18
ENST00000645506.1:c.2381_2385dup	ENSP00000495455.1:p.Thr796TyrfsTer18
ENST00000646415.1:c.2381_2385dup	ENSP00000495543.1:p.Thr796TyrfsTer18
ENST00000233146.6:c.2381_2385dup	ENSP00000233146.2:p.Thr796TyrfsTer18
ENST00000406134.5:c.2381_2385dup	ENSP00000384199.1:p.Thr796TyrfsTer18
ENST00000543555.5:c.2183_2187dup	ENSP00000442697.1:p.Thr730TyrfsTer18
ENST00000610696.4:c.*777_*781dup	ENSP00000483159.1:n.*777_*781dup
ENST00000613514.4:c.*921_*925dup	ENSP00000484137.1:n.*921_*925dup
ENST00000617333.3:c.*1147_*1151dup	ENSP00000482468.1:n.*1147_*1151dup
ENST00000617938.4:c.*1353_*1357dup	ENSP00000481158.1:n.*1353_*1357dup
ENST00000621359.2:c.2380_2384dup	ENSP00000481416.1:p.Gln795HisfsTer5
NM_000251.2:c.2381_2385dup , LRG_218t1:c.2381_2385dup	NP_000242.1:p.Thr796TyrfsTer18
NM_001258281.1:c.2183_2187dup	NP_001245210.1:p.Thr730TyrfsTer18
XM_005264332.2:c.2381_2385dup	XP_005264389.2:p.Thr796TyrfsTer18
XM_011532867.1:c.2381_2385dup	XP_011531169.1:p.Thr796TyrfsTer18
XR_939685.1:n.2453_2457dup
XM_005264332.4:c.2381_2385dup	XP_005264389.2:p.Thr796TyrfsTer18
XM_011532867.2:c.2381_2385dup	XP_011531169.1:p.Thr796TyrfsTer18
XR_001738747.2:n.2443_2447dup
XR_939685.2:n.2443_2447dup
NM_000251.3:c.2381_2385dup MANE Select	NP_000242.1:p.Thr796TyrfsTer18