Canonical Allele Identifier: CA2580067016

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1781572
• ClinVar RCV Id: RCV002414989 ; RCV003454292

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475130del , CM000664.2:g.47475130del	GRCh38
NC_000002.11:g.47702269del , CM000664.1:g.47702269del	GRCh37
NC_000002.10:g.47555773del	NCBI36
NG_007110.2:g.77007del , LRG_218:g.77007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1865del	ENSP00000495641.2:p.Pro622GlnfsTer13
ENST00000233146.7:c.1865del MANE Select	ENSP00000233146.2:p.Pro622GlnfsTer13
ENST00000543555.6:c.1667del	ENSP00000442697.1:p.Pro556GlnfsTer13
ENST00000644092.1:c.*165del	ENSP00000496351.1:n.*165del
ENST00000645339.1:c.1865del	ENSP00000496441.1:p.Pro622GlnfsTer13
ENST00000645506.1:c.1865del	ENSP00000495455.1:p.Pro622GlnfsTer13
ENST00000646415.1:c.1865del	ENSP00000495543.1:p.Pro622GlnfsTer13
ENST00000233146.6:c.1865del	ENSP00000233146.2:p.Pro622GlnfsTer13
ENST00000406134.5:c.1865del	ENSP00000384199.1:p.Pro622GlnfsTer13
ENST00000543555.5:c.1667del	ENSP00000442697.1:p.Pro556GlnfsTer13
ENST00000610696.4:c.*261del	ENSP00000483159.1:n.*261del
ENST00000613514.4:c.*405del	ENSP00000484137.1:n.*405del
ENST00000617333.3:c.*631del	ENSP00000482468.1:n.*631del
ENST00000617938.4:c.*837del	ENSP00000481158.1:n.*837del
ENST00000621359.2:c.1865del	ENSP00000481416.1:p.Pro622GlnfsTer13
NM_000251.2:c.1865del , LRG_218t1:c.1865del	NP_000242.1:p.Pro622GlnfsTer13
NM_001258281.1:c.1667del	NP_001245210.1:p.Pro556GlnfsTer13
XM_005264332.2:c.1865del	XP_005264389.2:p.Pro622GlnfsTer13
XM_011532867.1:c.1865del	XP_011531169.1:p.Pro622GlnfsTer13
XR_939685.1:n.1937del
XM_005264332.4:c.1865del	XP_005264389.2:p.Pro622GlnfsTer13
XM_011532867.2:c.1865del	XP_011531169.1:p.Pro622GlnfsTer13
XR_001738747.2:n.1927del
XR_939685.2:n.1927del
NM_000251.3:c.1865del MANE Select	NP_000242.1:p.Pro622GlnfsTer13