Canonical Allele Identifier: CA645369197

Gene: MSH2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478296_47478298del , CM000664.2:g.47478296_47478298del	GRCh38
NC_000002.11:g.47705435_47705437del , CM000664.1:g.47705435_47705437del	GRCh37
NC_000002.10:g.47558939_47558941del	NCBI36
NG_007110.2:g.80173_80175del , LRG_218:g.80173_80175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2235_2237del	ENSP00000495641.2:p.Ile746del
ENST00000233146.7:c.2235_2237del MANE Select	ENSP00000233146.2:p.Ile746del
ENST00000543555.6:c.2037_2039del	ENSP00000442697.1:p.Ile680del
ENST00000644092.1:c.*535_*537del	ENSP00000496351.1:n.*535_*537del
ENST00000644900.1:c.88_90del
ENST00000645339.1:c.2235_2237del	ENSP00000496441.1:p.Ile746del
ENST00000645506.1:c.2235_2237del	ENSP00000495455.1:p.Ile746del
ENST00000646415.1:c.2235_2237del	ENSP00000495543.1:p.Ile746del
ENST00000233146.6:c.2235_2237del	ENSP00000233146.2:p.Ile746del
ENST00000406134.5:c.2235_2237del	ENSP00000384199.1:p.Ile746del
ENST00000543555.5:c.2037_2039del	ENSP00000442697.1:p.Ile680del
ENST00000610696.4:c.*631_*633del	ENSP00000483159.1:n.*631_*633del
ENST00000613514.4:c.*775_*777del	ENSP00000484137.1:n.*775_*777del
ENST00000617333.3:c.*1001_*1003del	ENSP00000482468.1:n.*1001_*1003del
ENST00000617938.4:c.*1207_*1209del	ENSP00000481158.1:n.*1207_*1209del
ENST00000621359.2:c.2235_2237del	ENSP00000481416.1:p.Ile746del
NM_000251.2:c.2235_2237del , LRG_218t1:c.2235_2237del	NP_000242.1:p.Ile746del
NM_001258281.1:c.2037_2039del	NP_001245210.1:p.Ile680del
XM_005264332.2:c.2235_2237del	XP_005264389.2:p.Ile746del
XM_011532867.1:c.2235_2237del	XP_011531169.1:p.Ile746del
XR_939685.1:n.2307_2309del
XM_005264332.4:c.2235_2237del	XP_005264389.2:p.Ile746del
XM_011532867.2:c.2235_2237del	XP_011531169.1:p.Ile746del
XR_001738747.2:n.2297_2299del
XR_939685.2:n.2297_2299del
NM_000251.3:c.2235_2237del MANE Select	NP_000242.1:p.Ile746del