Canonical Allele Identifier: CA2580067050

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1791181
• ClinVar RCV Id: RCV002450462

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478493del , CM000664.2:g.47478493del	GRCh38
NC_000002.11:g.47705632del , CM000664.1:g.47705632del	GRCh37
NC_000002.10:g.47559136del	NCBI36
NG_007110.2:g.80370del , LRG_218:g.80370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2432del	ENSP00000495641.2:p.Leu811Ter
ENST00000233146.7:c.2432del MANE Select	ENSP00000233146.2:p.Leu811Ter
ENST00000543555.6:c.2234del	ENSP00000442697.1:p.Leu745Ter
ENST00000644092.1:c.*732del	ENSP00000496351.1:n.*732del
ENST00000644900.1:c.285del
ENST00000645339.1:c.2432del	ENSP00000496441.1:p.Leu811Ter
ENST00000645506.1:c.2432del	ENSP00000495455.1:p.Leu811Ter
ENST00000646415.1:c.2432del	ENSP00000495543.1:p.Leu811Ter
ENST00000233146.6:c.2432del	ENSP00000233146.2:p.Leu811Ter
ENST00000406134.5:c.2432del	ENSP00000384199.1:p.Leu811Ter
ENST00000543555.5:c.2234del	ENSP00000442697.1:p.Leu745Ter
ENST00000610696.4:c.*828del	ENSP00000483159.1:n.*828del
ENST00000613514.4:c.*972del	ENSP00000484137.1:n.*972del
ENST00000617333.3:c.*1198del	ENSP00000482468.1:n.*1198del
ENST00000617938.4:c.*1404del	ENSP00000481158.1:n.*1404del
ENST00000621359.2:c.2431del	ENSP00000481416.1:p.Ter811AsnextTer12
NM_000251.2:c.2432del , LRG_218t1:c.2432del	NP_000242.1:p.Leu811Ter
NM_001258281.1:c.2234del	NP_001245210.1:p.Leu745Ter
XM_005264332.2:c.2432del	XP_005264389.2:p.Leu811Ter
XM_011532867.1:c.2432del	XP_011531169.1:p.Leu811Ter
XR_939685.1:n.2504del
XM_005264332.4:c.2432del	XP_005264389.2:p.Leu811Ter
XM_011532867.2:c.2432del	XP_011531169.1:p.Leu811Ter
XR_001738747.2:n.2494del
XR_939685.2:n.2494del
NM_000251.3:c.2432del MANE Select	NP_000242.1:p.Leu811Ter