Canonical Allele Identifier: CA2586964913

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478427_47478436delinsTT , CM000664.2:g.47478427_47478436delinsTT	GRCh38
NC_000002.11:g.47705566_47705575delinsTT , CM000664.1:g.47705566_47705575delinsTT	GRCh37
NC_000002.10:g.47559070_47559079delinsTT	NCBI36
NG_007110.2:g.80304_80313delinsTT , LRG_218:g.80304_80313delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2366_2375delinsTT	ENSP00000495641.2:p.Ala789ValfsTer7
ENST00000233146.7:c.2366_2375delinsTT MANE Select	ENSP00000233146.2:p.Ala789ValfsTer7
ENST00000543555.6:c.2168_2177delinsTT	ENSP00000442697.1:p.Ala723ValfsTer7
ENST00000644092.1:c.*666_*675delinsTT	ENSP00000496351.1:n.*666_*675delinsTT
ENST00000644900.1:c.219_228delinsTT
ENST00000645339.1:c.2366_2375delinsTT	ENSP00000496441.1:p.Ala789ValfsTer7
ENST00000645506.1:c.2366_2375delinsTT	ENSP00000495455.1:p.Ala789ValfsTer7
ENST00000646415.1:c.2366_2375delinsTT	ENSP00000495543.1:p.Ala789ValfsTer7
ENST00000233146.6:c.2366_2375delinsTT	ENSP00000233146.2:p.Ala789ValfsTer7
ENST00000406134.5:c.2366_2375delinsTT	ENSP00000384199.1:p.Ala789ValfsTer7
ENST00000543555.5:c.2168_2177delinsTT	ENSP00000442697.1:p.Ala723ValfsTer7
ENST00000610696.4:c.*762_*771delinsTT	ENSP00000483159.1:n.*762_*771delinsTT
ENST00000613514.4:c.*906_*915delinsTT	ENSP00000484137.1:n.*906_*915delinsTT
ENST00000617333.3:c.*1132_*1141delinsTT	ENSP00000482468.1:n.*1132_*1141delinsTT
ENST00000617938.4:c.*1338_*1347delinsTT	ENSP00000481158.1:n.*1338_*1347delinsTT
ENST00000621359.2:c.2365_2374delinsTT	ENSP00000481416.1:p.Pro789PhefsTer?
NM_000251.2:c.2366_2375delinsTT , LRG_218t1:c.2366_2375delinsTT	NP_000242.1:p.Ala789ValfsTer7
NM_001258281.1:c.2168_2177delinsTT	NP_001245210.1:p.Ala723ValfsTer7
XM_005264332.2:c.2366_2375delinsTT	XP_005264389.2:p.Ala789ValfsTer7
XM_011532867.1:c.2366_2375delinsTT	XP_011531169.1:p.Ala789ValfsTer7
XR_939685.1:n.2438_2447delinsTT
XM_005264332.4:c.2366_2375delinsTT	XP_005264389.2:p.Ala789ValfsTer7
XM_011532867.2:c.2366_2375delinsTT	XP_011531169.1:p.Ala789ValfsTer7
XR_001738747.2:n.2428_2437delinsTT
XR_939685.2:n.2428_2437delinsTT
NM_000251.3:c.2366_2375delinsTT MANE Select	NP_000242.1:p.Ala789ValfsTer7