Canonical Allele Identifier: CA2580066816

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1788684
• ClinVar RCV Id: RCV002443793

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478325del , CM000664.2:g.47478325del	GRCh38
NC_000002.11:g.47705464del , CM000664.1:g.47705464del	GRCh37
NC_000002.10:g.47558968del	NCBI36
NG_007110.2:g.80202del , LRG_218:g.80202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2264del	ENSP00000495641.2:p.Ser755LeufsTer8
ENST00000233146.7:c.2264del MANE Select	ENSP00000233146.2:p.Ser755LeufsTer8
ENST00000543555.6:c.2066del	ENSP00000442697.1:p.Ser689LeufsTer8
ENST00000644092.1:c.*564del	ENSP00000496351.1:n.*564del
ENST00000644900.1:c.117del
ENST00000645339.1:c.2264del	ENSP00000496441.1:p.Ser755LeufsTer8
ENST00000645506.1:c.2264del	ENSP00000495455.1:p.Ser755LeufsTer8
ENST00000646415.1:c.2264del	ENSP00000495543.1:p.Ser755LeufsTer8
ENST00000233146.6:c.2264del	ENSP00000233146.2:p.Ser755LeufsTer8
ENST00000406134.5:c.2264del	ENSP00000384199.1:p.Ser755LeufsTer8
ENST00000543555.5:c.2066del	ENSP00000442697.1:p.Ser689LeufsTer8
ENST00000610696.4:c.*660del	ENSP00000483159.1:n.*660del
ENST00000613514.4:c.*804del	ENSP00000484137.1:n.*804del
ENST00000617333.3:c.*1030del	ENSP00000482468.1:n.*1030del
ENST00000617938.4:c.*1236del	ENSP00000481158.1:n.*1236del
ENST00000621359.2:c.2264del	ENSP00000481416.1:p.Ser755LeufsTer8
NM_000251.2:c.2264del , LRG_218t1:c.2264del	NP_000242.1:p.Ser755LeufsTer8
NM_001258281.1:c.2066del	NP_001245210.1:p.Ser689LeufsTer8
XM_005264332.2:c.2264del	XP_005264389.2:p.Ser755LeufsTer8
XM_011532867.1:c.2264del	XP_011531169.1:p.Ser755LeufsTer8
XR_939685.1:n.2336del
XM_005264332.4:c.2264del	XP_005264389.2:p.Ser755LeufsTer8
XM_011532867.2:c.2264del	XP_011531169.1:p.Ser755LeufsTer8
XR_001738747.2:n.2326del
XR_939685.2:n.2326del
NM_000251.3:c.2264del MANE Select	NP_000242.1:p.Ser755LeufsTer8