Canonical Allele Identifier: CA2739266196

Gene: EPM2A EPM2A-DT

Linked Data

• ClinVar Variation Id: 2809022
• ClinVar RCV Id: RCV003746952

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145735200_145735201delinsAA , CM000668.2:g.145735200_145735201delinsAA	GRCh38
NC_000006.11:g.146056336_146056337delinsAA , CM000668.1:g.146056336_146056337delinsAA	GRCh37
NC_000006.10:g.146098029_146098030delinsAA	NCBI36
NG_012832.1:g.5655_5656delinsTT
NG_012832.2:g.5655_5656delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.298_299delinsTT (EPM2A) MANE Select	ENSP00000356489.3:p.Glu100Leu
ENST00000435470.2:c.298_299delinsTT (EPM2A)	ENSP00000405913.2:p.Glu100Leu
ENST00000611340.5:c.-114+795_-114+796delinsTT (EPM2A)	ENSP00000480268.1:n.-114+795_-114+796delinsTT
ENST00000638262.1:c.298_299delinsTT (EPM2A)	ENSP00000492876.1:p.Glu100Leu
ENST00000638554.1:c.76_77delinsTT (EPM2A)	ENSP00000492823.1:p.Glu26Leu
ENST00000638717.1:c.81_82delinsTT (EPM2A)
ENST00000639049.1:c.270_271delinsTT (EPM2A)
ENST00000639423.1:c.-114+707_-114+708delinsTT (EPM2A)	ENSP00000492701.1:n.-114+707_-114+708delinsTT
ENST00000639649.1:n.226_227delinsTT (EPM2A)
ENST00000640297.1:n.314_315delinsTT (EPM2A)
ENST00000640351.1:c.37+44_37+45delinsTT (EPM2A)
ENST00000640898.1:n.82+707_82+708delinsTT (EPM2A)
ENST00000640980.1:c.-114+707_-114+708delinsTT (EPM2A)	ENSP00000491191.1:n.-114+707_-114+708delinsTT
ENST00000367519.7:c.298_299delinsTT (EPM2A)	ENSP00000356489.3:p.Glu100Leu
ENST00000435470.1:c.57_58delinsTT (EPM2A)
ENST00000618445.4:c.298_299delinsTT (EPM2A)	ENSP00000480339.1:p.Glu100Leu
NM_001018041.1:c.298_299delinsTT (EPM2A)	NP_001018051.1:p.Glu100Leu
NM_005670.3:c.298_299delinsTT (EPM2A)	NP_005661.1:p.Glu100Leu
NR_038246.1:n.52+280_52+281delinsAA (EPM2A-DT)
XM_006715564.2:c.298_299delinsTT (EPM2A)	XP_006715627.1:p.Glu100Leu
XM_011536113.1:c.298_299delinsTT (EPM2A)	XP_011534415.1:p.Glu100Leu
XM_011536114.1:c.298_299delinsTT (EPM2A)	XP_011534416.1:p.Glu100Leu
XM_011536115.1:c.298_299delinsTT (EPM2A)	XP_011534417.1:p.Glu100Leu
NM_001360057.1:c.298_299delinsTT (EPM2A)	NP_001346986.1:p.Glu100Leu
NM_001360064.1:c.-114+707_-114+708delinsTT (EPM2A)	NP_001346993.1:n.-114+707_-114+708delinsTT
NM_001360071.1:c.-372_-371delinsTT (EPM2A)	NP_001347000.1:n.-372_-371delinsTT
NR_153397.1:n.320_321delinsTT (EPM2A)
NR_153398.1:n.114+707_114+708delinsTT (EPM2A)
XM_011536113.2:c.298_299delinsTT (EPM2A)	XP_011534415.1:p.Glu100Leu
XM_024446550.1:c.298_299delinsTT (EPM2A)	XP_024302318.1:p.Glu100Leu
NM_005670.4:c.298_299delinsTT (EPM2A) MANE Select	NP_005661.1:p.Glu100Leu
NM_001018041.2:c.298_299delinsTT (EPM2A)	NP_001018051.1:p.Glu100Leu
NM_001360057.2:c.298_299delinsTT (EPM2A)	NP_001346986.1:p.Glu100Leu
NM_001360064.2:c.-114+707_-114+708delinsTT (EPM2A)	NP_001346993.1:n.-114+707_-114+708delinsTT
NM_001360071.2:c.-372_-371delinsTT (EPM2A)	NP_001347000.1:n.-372_-371delinsTT
NM_001368129.2:c.-326_-325delinsTT (EPM2A)	NP_001355058.1:n.-326_-325delinsTT
NM_001368130.1:c.298_299delinsTT (EPM2A)	NP_001355059.1:p.Glu100Leu
NM_001368131.1:c.-114+44_-114+45delinsTT (EPM2A)	NP_001355060.1:n.-114+44_-114+45delinsTT
NR_153398.2:n.116+707_116+708delinsTT (EPM2A)