Canonical Allele Identifier: CA2586964911

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478413_47478422del , CM000664.2:g.47478413_47478422del	GRCh38
NC_000002.11:g.47705552_47705561del , CM000664.1:g.47705552_47705561del	GRCh37
NC_000002.10:g.47559056_47559065del	NCBI36
NG_007110.2:g.80290_80299del , LRG_218:g.80290_80299del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2352_2361del	ENSP00000495641.2:p.Phe784LeufsTer25
ENST00000233146.7:c.2352_2361del MANE Select	ENSP00000233146.2:p.Phe784LeufsTer25
ENST00000543555.6:c.2154_2163del	ENSP00000442697.1:p.Phe718LeufsTer25
ENST00000644092.1:c.*652_*661del	ENSP00000496351.1:n.*652_*661del
ENST00000644900.1:c.205_214del
ENST00000645339.1:c.2352_2361del	ENSP00000496441.1:p.Phe784LeufsTer25
ENST00000645506.1:c.2352_2361del	ENSP00000495455.1:p.Phe784LeufsTer25
ENST00000646415.1:c.2352_2361del	ENSP00000495543.1:p.Phe784LeufsTer25
ENST00000233146.6:c.2352_2361del	ENSP00000233146.2:p.Phe784LeufsTer25
ENST00000406134.5:c.2352_2361del	ENSP00000384199.1:p.Phe784LeufsTer25
ENST00000543555.5:c.2154_2163del	ENSP00000442697.1:p.Phe718LeufsTer25
ENST00000610696.4:c.*748_*757del	ENSP00000483159.1:n.*748_*757del
ENST00000613514.4:c.*892_*901del	ENSP00000484137.1:n.*892_*901del
ENST00000617333.3:c.*1118_*1127del	ENSP00000482468.1:n.*1118_*1127del
ENST00000617938.4:c.*1324_*1333del	ENSP00000481158.1:n.*1324_*1333del
ENST00000621359.2:c.2351_2360del	ENSP00000481416.1:p.Phe784TyrfsTer11
NM_000251.2:c.2352_2361del , LRG_218t1:c.2352_2361del	NP_000242.1:p.Phe784LeufsTer25
NM_001258281.1:c.2154_2163del	NP_001245210.1:p.Phe718LeufsTer25
XM_005264332.2:c.2352_2361del	XP_005264389.2:p.Phe784LeufsTer25
XM_011532867.1:c.2352_2361del	XP_011531169.1:p.Phe784LeufsTer25
XR_939685.1:n.2424_2433del
XM_005264332.4:c.2352_2361del	XP_005264389.2:p.Phe784LeufsTer25
XM_011532867.2:c.2352_2361del	XP_011531169.1:p.Phe784LeufsTer25
XR_001738747.2:n.2414_2423del
XR_939685.2:n.2414_2423del
NM_000251.3:c.2352_2361del MANE Select	NP_000242.1:p.Phe784LeufsTer25