Canonical Allele Identifier: CA2582342388

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2584865
• ClinVar RCV Id: RCV003340765

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476434del , CM000664.2:g.47476434del	GRCh38
NC_000002.11:g.47703573del , CM000664.1:g.47703573del	GRCh37
NC_000002.10:g.47557077del	NCBI36
NG_007110.2:g.78311del , LRG_218:g.78311del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2073del	ENSP00000495641.2:p.Ile691MetfsTer19
ENST00000233146.7:c.2073del MANE Select	ENSP00000233146.2:p.Ile691MetfsTer19
ENST00000543555.6:c.1875del	ENSP00000442697.1:p.Ile625MetfsTer19
ENST00000644092.1:c.*373del	ENSP00000496351.1:n.*373del
ENST00000645339.1:c.2073del	ENSP00000496441.1:p.Ile691MetfsTer19
ENST00000645506.1:c.2073del	ENSP00000495455.1:p.Ile691MetfsTer19
ENST00000646415.1:c.2073del	ENSP00000495543.1:p.Ile691MetfsTer19
ENST00000233146.6:c.2073del	ENSP00000233146.2:p.Ile691MetfsTer19
ENST00000406134.5:c.2073del	ENSP00000384199.1:p.Ile691MetfsTer19
ENST00000543555.5:c.1875del	ENSP00000442697.1:p.Ile625MetfsTer19
ENST00000610696.4:c.*469del	ENSP00000483159.1:n.*469del
ENST00000613514.4:c.*613del	ENSP00000484137.1:n.*613del
ENST00000617333.3:c.*839del	ENSP00000482468.1:n.*839del
ENST00000617938.4:c.*1045del	ENSP00000481158.1:n.*1045del
ENST00000621359.2:c.2073del	ENSP00000481416.1:p.Ile691MetfsTer19
NM_000251.2:c.2073del , LRG_218t1:c.2073del	NP_000242.1:p.Ile691MetfsTer19
NM_001258281.1:c.1875del	NP_001245210.1:p.Ile625MetfsTer19
XM_005264332.2:c.2073del	XP_005264389.2:p.Ile691MetfsTer19
XM_011532867.1:c.2073del	XP_011531169.1:p.Ile691MetfsTer19
XR_939685.1:n.2145del
XM_005264332.4:c.2073del	XP_005264389.2:p.Ile691MetfsTer19
XM_011532867.2:c.2073del	XP_011531169.1:p.Ile691MetfsTer19
XR_001738747.2:n.2135del
XR_939685.2:n.2135del
NM_000251.3:c.2073del MANE Select	NP_000242.1:p.Ile691MetfsTer19