Canonical Allele Identifier: CA2695200717

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2673472
• ClinVar RCV Id: RCV003450194

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478324del , CM000664.2:g.47478324del	GRCh38
NC_000002.11:g.47705463del , CM000664.1:g.47705463del	GRCh37
NC_000002.10:g.47558967del	NCBI36
NG_007110.2:g.80201del , LRG_218:g.80201del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2263del	ENSP00000495641.2:p.Ser755LeufsTer8
ENST00000233146.7:c.2263del MANE Select	ENSP00000233146.2:p.Ser755LeufsTer8
ENST00000543555.6:c.2065del	ENSP00000442697.1:p.Ser689LeufsTer8
ENST00000644092.1:c.*563del	ENSP00000496351.1:n.*563del
ENST00000644900.1:c.116del
ENST00000645339.1:c.2263del	ENSP00000496441.1:p.Ser755LeufsTer8
ENST00000645506.1:c.2263del	ENSP00000495455.1:p.Ser755LeufsTer8
ENST00000646415.1:c.2263del	ENSP00000495543.1:p.Ser755LeufsTer8
ENST00000233146.6:c.2263del	ENSP00000233146.2:p.Ser755LeufsTer8
ENST00000406134.5:c.2263del	ENSP00000384199.1:p.Ser755LeufsTer8
ENST00000543555.5:c.2065del	ENSP00000442697.1:p.Ser689LeufsTer8
ENST00000610696.4:c.*659del	ENSP00000483159.1:n.*659del
ENST00000613514.4:c.*803del	ENSP00000484137.1:n.*803del
ENST00000617333.3:c.*1029del	ENSP00000482468.1:n.*1029del
ENST00000617938.4:c.*1235del	ENSP00000481158.1:n.*1235del
ENST00000621359.2:c.2263del	ENSP00000481416.1:p.Ser755LeufsTer8
NM_000251.2:c.2263del , LRG_218t1:c.2263del	NP_000242.1:p.Ser755LeufsTer8
NM_001258281.1:c.2065del	NP_001245210.1:p.Ser689LeufsTer8
XM_005264332.2:c.2263del	XP_005264389.2:p.Ser755LeufsTer8
XM_011532867.1:c.2263del	XP_011531169.1:p.Ser755LeufsTer8
XR_939685.1:n.2335del
XM_005264332.4:c.2263del	XP_005264389.2:p.Ser755LeufsTer8
XM_011532867.2:c.2263del	XP_011531169.1:p.Ser755LeufsTer8
XR_001738747.2:n.2325del
XR_939685.2:n.2325del
NM_000251.3:c.2263del MANE Select	NP_000242.1:p.Ser755LeufsTer8