Canonical Allele Identifier: CA915943844

Gene: MSH2

Linked Data

• ClinVar Variation Id: 637008
• ClinVar RCV Id: RCV000788994
• dbSNP Id: rs1573574436

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478443del , CM000664.2:g.47478443del	GRCh38
NC_000002.11:g.47705582del , CM000664.1:g.47705582del	GRCh37
NC_000002.10:g.47559086del	NCBI36
NG_007110.2:g.80320del , LRG_218:g.80320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2382del	ENSP00000495641.2:p.Pro795GlnfsTer17
ENST00000233146.7:c.2382del MANE Select	ENSP00000233146.2:p.Pro795GlnfsTer17
ENST00000543555.6:c.2184del	ENSP00000442697.1:p.Pro729GlnfsTer17
ENST00000644092.1:c.*682del	ENSP00000496351.1:n.*682del
ENST00000644900.1:c.235del
ENST00000645339.1:c.2382del	ENSP00000496441.1:p.Pro795GlnfsTer17
ENST00000645506.1:c.2382del	ENSP00000495455.1:p.Pro795GlnfsTer17
ENST00000646415.1:c.2382del	ENSP00000495543.1:p.Pro795GlnfsTer17
ENST00000233146.6:c.2382del	ENSP00000233146.2:p.Pro795GlnfsTer17
ENST00000406134.5:c.2382del	ENSP00000384199.1:p.Pro795GlnfsTer17
ENST00000543555.5:c.2184del	ENSP00000442697.1:p.Pro729GlnfsTer17
ENST00000610696.4:c.*778del	ENSP00000483159.1:n.*778del
ENST00000613514.4:c.*922del	ENSP00000484137.1:n.*922del
ENST00000617333.3:c.*1148del	ENSP00000482468.1:n.*1148del
ENST00000617938.4:c.*1354del	ENSP00000481158.1:n.*1354del
ENST00000621359.2:c.2381del	ENSP00000481416.1:p.Tyr794SerfsTer4
NM_000251.2:c.2382del , LRG_218t1:c.2382del	NP_000242.1:p.Pro795GlnfsTer17
NM_001258281.1:c.2184del	NP_001245210.1:p.Pro729GlnfsTer17
XM_005264332.2:c.2382del	XP_005264389.2:p.Pro795GlnfsTer17
XM_011532867.1:c.2382del	XP_011531169.1:p.Pro795GlnfsTer17
XR_939685.1:n.2454del
XM_005264332.4:c.2382del	XP_005264389.2:p.Pro795GlnfsTer17
XM_011532867.2:c.2382del	XP_011531169.1:p.Pro795GlnfsTer17
XR_001738747.2:n.2444del
XR_939685.2:n.2444del
NM_000251.3:c.2382del MANE Select	NP_000242.1:p.Pro795GlnfsTer17