Canonical Allele Identifier: CA2740795688

Gene: EPM2A EPM2A-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145735199_145735200insCACCGA , CM000668.2:g.145735199_145735200insCACCGA	GRCh38
NC_000006.11:g.146056335_146056336insCACCGA , CM000668.1:g.146056335_146056336insCACCGA	GRCh37
NC_000006.10:g.146098028_146098029insCACCGA	NCBI36
NG_012832.1:g.5656_5657insTCGGTG
NG_012832.2:g.5656_5657insTCGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.299_300insTCGGTG (EPM2A) MANE Select	ENSP00000356489.3:p.Glu100AspfsTer3
ENST00000435470.2:c.299_300insTCGGTG (EPM2A)	ENSP00000405913.2:p.Glu100AspfsTer3
ENST00000611340.5:c.-114+796_-114+797insTCGGTG (EPM2A)	ENSP00000480268.1:n.-114+796_-114+797insTCGGTG
ENST00000638262.1:c.299_300insTCGGTG (EPM2A)	ENSP00000492876.1:p.Glu100AspfsTer3
ENST00000638554.1:c.77_78insTCGGTG (EPM2A)	ENSP00000492823.1:p.Glu26AspfsTer3
ENST00000638717.1:c.82_83insTCGGTG (EPM2A)
ENST00000639049.1:c.271_272insTCGGTG (EPM2A)
ENST00000639423.1:c.-114+708_-114+709insTCGGTG (EPM2A)	ENSP00000492701.1:n.-114+708_-114+709insTCGGTG
ENST00000639649.1:n.227_228insTCGGTG (EPM2A)
ENST00000640297.1:n.315_316insTCGGTG (EPM2A)
ENST00000640351.1:c.37+45_37+46insTCGGTG (EPM2A)
ENST00000640898.1:n.82+708_82+709insTCGGTG (EPM2A)
ENST00000640980.1:c.-114+708_-114+709insTCGGTG (EPM2A)	ENSP00000491191.1:n.-114+708_-114+709insTCGGTG
ENST00000367519.7:c.299_300insTCGGTG (EPM2A)	ENSP00000356489.3:p.Glu100AspfsTer3
ENST00000435470.1:c.58_59insTCGGTG (EPM2A)
ENST00000618445.4:c.299_300insTCGGTG (EPM2A)	ENSP00000480339.1:p.Glu100AspfsTer3
NM_001018041.1:c.299_300insTCGGTG (EPM2A)	NP_001018051.1:p.Glu100AspfsTer3
NM_005670.3:c.299_300insTCGGTG (EPM2A)	NP_005661.1:p.Glu100AspfsTer3
NR_038246.1:n.52+279_52+280insCACCGA (EPM2A-DT)
XM_006715564.2:c.299_300insTCGGTG (EPM2A)	XP_006715627.1:p.Glu100AspfsTer3
XM_011536113.1:c.299_300insTCGGTG (EPM2A)	XP_011534415.1:p.Glu100AspfsTer3
XM_011536114.1:c.299_300insTCGGTG (EPM2A)	XP_011534416.1:p.Glu100AspfsTer3
XM_011536115.1:c.299_300insTCGGTG (EPM2A)	XP_011534417.1:p.Glu100AspfsTer3
NM_001360057.1:c.299_300insTCGGTG (EPM2A)	NP_001346986.1:p.Glu100AspfsTer3
NM_001360064.1:c.-114+708_-114+709insTCGGTG (EPM2A)	NP_001346993.1:n.-114+708_-114+709insTCGGTG
NM_001360071.1:c.-371_-370insTCGGTG (EPM2A)	NP_001347000.1:n.-371_-370insTCGGTG
NR_153397.1:n.321_322insTCGGTG (EPM2A)
NR_153398.1:n.114+708_114+709insTCGGTG (EPM2A)
XM_011536113.2:c.299_300insTCGGTG (EPM2A)	XP_011534415.1:p.Glu100AspfsTer3
XM_024446550.1:c.299_300insTCGGTG (EPM2A)	XP_024302318.1:p.Glu100AspfsTer3
NM_005670.4:c.299_300insTCGGTG (EPM2A) MANE Select	NP_005661.1:p.Glu100AspfsTer3
NM_001018041.2:c.299_300insTCGGTG (EPM2A)	NP_001018051.1:p.Glu100AspfsTer3
NM_001360057.2:c.299_300insTCGGTG (EPM2A)	NP_001346986.1:p.Glu100AspfsTer3
NM_001360064.2:c.-114+708_-114+709insTCGGTG (EPM2A)	NP_001346993.1:n.-114+708_-114+709insTCGGTG
NM_001360071.2:c.-371_-370insTCGGTG (EPM2A)	NP_001347000.1:n.-371_-370insTCGGTG
NM_001368129.2:c.-325_-324insTCGGTG (EPM2A)	NP_001355058.1:n.-325_-324insTCGGTG
NM_001368130.1:c.299_300insTCGGTG (EPM2A)	NP_001355059.1:p.Glu100AspfsTer3
NM_001368131.1:c.-114+45_-114+46insTCGGTG (EPM2A)	NP_001355060.1:n.-114+45_-114+46insTCGGTG
NR_153398.2:n.116+708_116+709insTCGGTG (EPM2A)