Canonical Allele Identifier: CA645514883

Gene: MSH2

Linked Data

• COSMIC: COSM5573779

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478425_47478426insTACA , CM000664.2:g.47478425_47478426insTACA	GRCh38
NC_000002.11:g.47705564_47705565insTACA , CM000664.1:g.47705564_47705565insTACA	GRCh37
NC_000002.10:g.47559068_47559069insTACA	NCBI36
NG_007110.2:g.80302_80303insTACA , LRG_218:g.80302_80303insTACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2364_2365insTACA	ENSP00000495641.2:p.Ala789TyrfsTer11
ENST00000233146.7:c.2364_2365insTACA MANE Select	ENSP00000233146.2:p.Ala789TyrfsTer11
ENST00000543555.6:c.2166_2167insTACA	ENSP00000442697.1:p.Ala723TyrfsTer11
ENST00000644092.1:c.*664_*665insTACA	ENSP00000496351.1:n.*664_*665insTACA
ENST00000644900.1:c.217_218insTACA
ENST00000645339.1:c.2364_2365insTACA	ENSP00000496441.1:p.Ala789TyrfsTer11
ENST00000645506.1:c.2364_2365insTACA	ENSP00000495455.1:p.Ala789TyrfsTer11
ENST00000646415.1:c.2364_2365insTACA	ENSP00000495543.1:p.Ala789TyrfsTer11
ENST00000233146.6:c.2364_2365insTACA	ENSP00000233146.2:p.Ala789TyrfsTer11
ENST00000406134.5:c.2364_2365insTACA	ENSP00000384199.1:p.Ala789TyrfsTer11
ENST00000543555.5:c.2166_2167insTACA	ENSP00000442697.1:p.Ala723TyrfsTer11
ENST00000610696.4:c.*760_*761insTACA	ENSP00000483159.1:n.*760_*761insTACA
ENST00000613514.4:c.*904_*905insTACA	ENSP00000484137.1:n.*904_*905insTACA
ENST00000617333.3:c.*1130_*1131insTACA	ENSP00000482468.1:n.*1130_*1131insTACA
ENST00000617938.4:c.*1336_*1337insTACA	ENSP00000481158.1:n.*1336_*1337insTACA
ENST00000621359.2:c.2363_2364insTACA	ENSP00000481416.1:p.Pro789ThrfsTer?
NM_000251.2:c.2364_2365insTACA , LRG_218t1:c.2364_2365insTACA	NP_000242.1:p.Ala789TyrfsTer11
NM_001258281.1:c.2166_2167insTACA	NP_001245210.1:p.Ala723TyrfsTer11
XM_005264332.2:c.2364_2365insTACA	XP_005264389.2:p.Ala789TyrfsTer11
XM_011532867.1:c.2364_2365insTACA	XP_011531169.1:p.Ala789TyrfsTer11
XR_939685.1:n.2436_2437insTACA
XM_005264332.4:c.2364_2365insTACA	XP_005264389.2:p.Ala789TyrfsTer11
XM_011532867.2:c.2364_2365insTACA	XP_011531169.1:p.Ala789TyrfsTer11
XR_001738747.2:n.2426_2427insTACA
XR_939685.2:n.2426_2427insTACA
NM_000251.3:c.2364_2365insTACA MANE Select	NP_000242.1:p.Ala789TyrfsTer11