Canonical Allele Identifier: CA1670286170

Gene: EPM2A EPM2A-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145735171_145735173delinsCCG , CM000668.2:g.145735171_145735173delinsCCG	GRCh38
NC_000006.11:g.146056307_146056309delinsCCG , CM000668.1:g.146056307_146056309delinsCCG	GRCh37
NC_000006.10:g.146098000_146098002delinsCCG	NCBI36
NG_012832.1:g.5683_5685delinsCGG
NG_012832.2:g.5683_5685delinsCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.301+25_301+27delinsCGG (EPM2A) MANE Select	ENSP00000356489.3:n.301+25_301+27delinsCGG
ENST00000435470.2:c.301+25_301+27delinsCGG (EPM2A)	ENSP00000405913.2:n.301+25_301+27delinsCGG
ENST00000611340.5:c.-114+823_-114+825delinsCGG (EPM2A)	ENSP00000480268.1:n.-114+823_-114+825delinsCGG
ENST00000638262.1:c.301+25_301+27delinsCGG (EPM2A)	ENSP00000492876.1:n.301+25_301+27delinsCGG
ENST00000638554.1:c.79+25_79+27delinsCGG (EPM2A)	ENSP00000492823.1:n.79+25_79+27delinsCGG
ENST00000638717.1:c.84+25_84+27delinsCGG (EPM2A)
ENST00000639049.1:c.273+25_273+27delinsCGG (EPM2A)
ENST00000639423.1:c.-114+735_-114+737delinsCGG (EPM2A)	ENSP00000492701.1:n.-114+735_-114+737delinsCGG
ENST00000639649.1:n.254_256delinsCGG (EPM2A)
ENST00000640297.1:n.317+25_317+27delinsCGG (EPM2A)
ENST00000640351.1:c.37+72_37+74delinsCGG (EPM2A)
ENST00000640898.1:n.82+735_82+737delinsCGG (EPM2A)
ENST00000640980.1:c.-114+735_-114+737delinsCGG (EPM2A)	ENSP00000491191.1:n.-114+735_-114+737delinsCGG
ENST00000367519.7:c.301+25_301+27delinsCGG (EPM2A)	ENSP00000356489.3:n.301+25_301+27delinsCGG
ENST00000435470.1:c.60+25_60+27delinsCGG (EPM2A)
ENST00000618445.4:c.301+25_301+27delinsCGG (EPM2A)	ENSP00000480339.1:n.301+25_301+27delinsCGG
NM_001018041.1:c.301+25_301+27delinsCGG (EPM2A)	NP_001018051.1:n.301+25_301+27delinsCGG
NM_005670.3:c.301+25_301+27delinsCGG (EPM2A)	NP_005661.1:n.301+25_301+27delinsCGG
NR_038246.1:n.52+251_52+253delinsCCG (EPM2A-DT)
XM_006715564.2:c.301+25_301+27delinsCGG (EPM2A)	XP_006715627.1:n.301+25_301+27delinsCGG
XM_011536113.1:c.301+25_301+27delinsCGG (EPM2A)	XP_011534415.1:n.301+25_301+27delinsCGG
XM_011536114.1:c.301+25_301+27delinsCGG (EPM2A)	XP_011534416.1:n.301+25_301+27delinsCGG
XM_011536115.1:c.301+25_301+27delinsCGG (EPM2A)	XP_011534417.1:n.301+25_301+27delinsCGG
NM_001360057.1:c.301+25_301+27delinsCGG (EPM2A)	NP_001346986.1:n.301+25_301+27delinsCGG
NM_001360064.1:c.-114+735_-114+737delinsCGG (EPM2A)	NP_001346993.1:n.-114+735_-114+737delinsCGG
NM_001360071.1:c.-369+25_-369+27delinsCGG (EPM2A)	NP_001347000.1:n.-369+25_-369+27delinsCGG
NR_153397.1:n.323+25_323+27delinsCGG (EPM2A)
NR_153398.1:n.114+735_114+737delinsCGG (EPM2A)
XM_011536113.2:c.301+25_301+27delinsCGG (EPM2A)	XP_011534415.1:n.301+25_301+27delinsCGG
XM_024446550.1:c.301+25_301+27delinsCGG (EPM2A)	XP_024302318.1:n.301+25_301+27delinsCGG
NM_005670.4:c.301+25_301+27delinsCGG (EPM2A) MANE Select	NP_005661.1:n.301+25_301+27delinsCGG
NM_001018041.2:c.301+25_301+27delinsCGG (EPM2A)	NP_001018051.1:n.301+25_301+27delinsCGG
NM_001360057.2:c.301+25_301+27delinsCGG (EPM2A)	NP_001346986.1:n.301+25_301+27delinsCGG
NM_001360064.2:c.-114+735_-114+737delinsCGG (EPM2A)	NP_001346993.1:n.-114+735_-114+737delinsCGG
NM_001360071.2:c.-369+25_-369+27delinsCGG (EPM2A)	NP_001347000.1:n.-369+25_-369+27delinsCGG
NM_001368129.2:c.-323+25_-323+27delinsCGG (EPM2A)	NP_001355058.1:n.-323+25_-323+27delinsCGG
NM_001368130.1:c.301+25_301+27delinsCGG (EPM2A)	NP_001355059.1:n.301+25_301+27delinsCGG
NM_001368131.1:c.-114+72_-114+74delinsCGG (EPM2A)	NP_001355060.1:n.-114+72_-114+74delinsCGG
NR_153398.2:n.116+735_116+737delinsCGG (EPM2A)