Canonical Allele Identifier: CA2586964818

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475048_47475140del , CM000664.2:g.47475048_47475140del	GRCh38
NC_000002.11:g.47702187_47702279del , CM000664.1:g.47702187_47702279del	GRCh37
NC_000002.10:g.47555691_47555783del	NCBI36
NG_007110.2:g.76925_77017del , LRG_218:g.76925_77017del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1783_1875del	ENSP00000495641.2:p.Leu595_Leu625del
ENST00000233146.7:c.1783_1875del MANE Select	ENSP00000233146.2:p.Leu595_Leu625del
ENST00000543555.6:c.1585_1677del	ENSP00000442697.1:p.Leu529_Leu559del
ENST00000644092.1:c.*83_*175del	ENSP00000496351.1:n.*83_*175del
ENST00000645339.1:c.1783_1875del	ENSP00000496441.1:p.Leu595_Leu625del
ENST00000645506.1:c.1783_1875del	ENSP00000495455.1:p.Leu595_Leu625del
ENST00000646415.1:c.1783_1875del	ENSP00000495543.1:p.Leu595_Leu625del
ENST00000233146.6:c.1783_1875del	ENSP00000233146.2:p.Leu595_Leu625del
ENST00000406134.5:c.1783_1875del	ENSP00000384199.1:p.Leu595_Leu625del
ENST00000543555.5:c.1585_1677del	ENSP00000442697.1:p.Leu529_Leu559del
ENST00000610696.4:c.*179_*271del	ENSP00000483159.1:n.*179_*271del
ENST00000613514.4:c.*323_*415del	ENSP00000484137.1:n.*323_*415del
ENST00000617333.3:c.*549_*641del	ENSP00000482468.1:n.*549_*641del
ENST00000617938.4:c.*755_*847del	ENSP00000481158.1:n.*755_*847del
ENST00000621359.2:c.1783_1875del	ENSP00000481416.1:p.Leu595_Leu625del
NM_000251.2:c.1783_1875del , LRG_218t1:c.1783_1875del	NP_000242.1:p.Leu595_Leu625del
NM_001258281.1:c.1585_1677del	NP_001245210.1:p.Leu529_Leu559del
XM_005264332.2:c.1783_1875del	XP_005264389.2:p.Leu595_Leu625del
XM_011532867.1:c.1783_1875del	XP_011531169.1:p.Leu595_Leu625del
XR_939685.1:n.1855_1947del
XM_005264332.4:c.1783_1875del	XP_005264389.2:p.Leu595_Leu625del
XM_011532867.2:c.1783_1875del	XP_011531169.1:p.Leu595_Leu625del
XR_001738747.2:n.1845_1937del
XR_939685.2:n.1845_1937del
NM_000251.3:c.1783_1875del MANE Select	NP_000242.1:p.Leu595_Leu625del