Canonical Allele Identifier: CA2573134974

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1433619
• ClinVar RCV Id: RCV001960145 ; RCV003136334
• dbSNP Id: rs2104179024

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47414396_47414399del , CM000664.2:g.47414396_47414399del	GRCh38
NC_000002.11:g.47641535_47641538del , CM000664.1:g.47641535_47641538del	GRCh37
NC_000002.10:g.47495039_47495042del	NCBI36
NG_007110.2:g.16273_16276del , LRG_218:g.16273_16276del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.920_923del	ENSP00000495641.2:p.Val307GlufsTer23
ENST00000233146.7:c.920_923del MANE Select	ENSP00000233146.2:p.Val307GlufsTer23
ENST00000543555.6:c.722_725del	ENSP00000442697.1:p.Val241GlufsTer23
ENST00000644092.1:c.920_923del	ENSP00000496351.1:p.Val307GlufsTer23
ENST00000645339.1:c.920_923del	ENSP00000496441.1:p.Val307GlufsTer23
ENST00000645506.1:c.920_923del	ENSP00000495455.1:p.Val307GlufsTer23
ENST00000646415.1:c.920_923del	ENSP00000495543.1:p.Val307GlufsTer23
ENST00000233146.6:c.920_923del	ENSP00000233146.2:p.Val307GlufsTer23
ENST00000406134.5:c.920_923del	ENSP00000384199.1:p.Val307GlufsTer23
ENST00000543555.5:c.722_725del	ENSP00000442697.1:p.Val241GlufsTer23
ENST00000610696.4:c.920_923del	ENSP00000483159.1:p.Val307GlufsTer23
ENST00000613514.4:c.920_923del	ENSP00000484137.1:p.Val307GlufsTer23
ENST00000617333.3:c.920_923del	ENSP00000482468.1:p.Val307GlufsTer23
ENST00000617938.4:c.920_923del	ENSP00000481158.1:p.Val307GlufsTer23
ENST00000621359.2:c.920_923del	ENSP00000481416.1:p.Val307GlufsTer23
NM_000251.2:c.920_923del , LRG_218t1:c.920_923del	NP_000242.1:p.Val307GlufsTer23
NM_001258281.1:c.722_725del	NP_001245210.1:p.Val241GlufsTer23
XM_005264332.2:c.920_923del	XP_005264389.2:p.Val307GlufsTer23
XM_011532867.1:c.920_923del	XP_011531169.1:p.Val307GlufsTer23
XR_939685.1:n.992_995del
XM_005264332.4:c.920_923del	XP_005264389.2:p.Val307GlufsTer23
XM_011532867.2:c.920_923del	XP_011531169.1:p.Val307GlufsTer23
XR_001738747.2:n.982_985del
XR_939685.2:n.982_985del
NM_000251.3:c.920_923del MANE Select	NP_000242.1:p.Val307GlufsTer23