Canonical Allele Identifier: CA2499306923

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478420_47478431del , CM000664.2:g.47478420_47478431del	GRCh38
NC_000002.11:g.47705559_47705570del , CM000664.1:g.47705559_47705570del	GRCh37
NC_000002.10:g.47559063_47559074del	NCBI36
NG_007110.2:g.80297_80308del , LRG_218:g.80297_80308del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2359_2370del	ENSP00000495641.2:p.Leu787_Leu790del
ENST00000233146.7:c.2359_2370del MANE Select	ENSP00000233146.2:p.Leu787_Leu790del
ENST00000543555.6:c.2161_2172del	ENSP00000442697.1:p.Leu721_Leu724del
ENST00000644092.1:c.*659_*670del	ENSP00000496351.1:n.*659_*670del
ENST00000644900.1:c.212_223del
ENST00000645339.1:c.2359_2370del	ENSP00000496441.1:p.Leu787_Leu790del
ENST00000645506.1:c.2359_2370del	ENSP00000495455.1:p.Leu787_Leu790del
ENST00000646415.1:c.2359_2370del	ENSP00000495543.1:p.Leu787_Leu790del
ENST00000233146.6:c.2359_2370del	ENSP00000233146.2:p.Leu787_Leu790del
ENST00000406134.5:c.2359_2370del	ENSP00000384199.1:p.Leu787_Leu790del
ENST00000543555.5:c.2161_2172del	ENSP00000442697.1:p.Leu721_Leu724del
ENST00000610696.4:c.*755_*766del	ENSP00000483159.1:n.*755_*766del
ENST00000613514.4:c.*899_*910del	ENSP00000484137.1:n.*899_*910del
ENST00000617333.3:c.*1125_*1136del	ENSP00000482468.1:n.*1125_*1136del
ENST00000617938.4:c.*1331_*1342del	ENSP00000481158.1:n.*1331_*1342del
ENST00000621359.2:c.2358_2369del	ENSP00000481416.1:p.Asn786_Trp790delinsLys
NM_000251.2:c.2359_2370del , LRG_218t1:c.2359_2370del	NP_000242.1:p.Leu787_Leu790del
NM_001258281.1:c.2161_2172del	NP_001245210.1:p.Leu721_Leu724del
XM_005264332.2:c.2359_2370del	XP_005264389.2:p.Leu787_Leu790del
XM_011532867.1:c.2359_2370del	XP_011531169.1:p.Leu787_Leu790del
XR_939685.1:n.2431_2442del
XM_005264332.4:c.2359_2370del	XP_005264389.2:p.Leu787_Leu790del
XM_011532867.2:c.2359_2370del	XP_011531169.1:p.Leu787_Leu790del
XR_001738747.2:n.2421_2432del
XR_939685.2:n.2421_2432del
NM_000251.3:c.2359_2370del MANE Select	NP_000242.1:p.Leu787_Leu790del