Canonical Allele Identifier: CA2680645211

Gene: EPM2A EPM2A-DT

Linked Data

• gnomAD v4: 6-145735315-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145735316del , CM000668.2:g.145735316del	GRCh38
NC_000006.11:g.146056452del , CM000668.1:g.146056452del	GRCh37
NC_000006.10:g.146098145del	NCBI36
NG_012832.1:g.5540del
NG_012832.2:g.5540del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367519.9:c.183del (EPM2A) MANE Select	ENSP00000356489.3:p.Glu63ArgfsTer27
ENST00000435470.2:c.183del (EPM2A)	ENSP00000405913.2:p.Glu63ArgfsTer27
ENST00000611340.5:c.-114+680del (EPM2A)	ENSP00000480268.1:n.-114+680del
ENST00000638262.1:c.183del (EPM2A)	ENSP00000492876.1:p.Glu63ArgfsTer27
ENST00000639049.1:c.155del (EPM2A)
ENST00000639423.1:c.-114+592del (EPM2A)	ENSP00000492701.1:n.-114+592del
ENST00000639649.1:n.111del (EPM2A)
ENST00000640297.1:n.199del (EPM2A)
ENST00000640898.1:n.82+592del (EPM2A)
ENST00000640980.1:c.-114+592del (EPM2A)	ENSP00000491191.1:n.-114+592del
ENST00000367519.7:c.183del (EPM2A)	ENSP00000356489.3:p.Glu63ArgfsTer27
ENST00000618445.4:c.183del (EPM2A)	ENSP00000480339.1:p.Glu63ArgfsTer27
NM_001018041.1:c.183del (EPM2A)	NP_001018051.1:p.Glu63ArgfsTer27
NM_005670.3:c.183del (EPM2A)	NP_005661.1:p.Glu63ArgfsTer27
NR_038246.1:n.52+396del (EPM2A-DT)
XM_006715564.2:c.183del (EPM2A)	XP_006715627.1:p.Glu63ArgfsTer27
XM_011536113.1:c.183del (EPM2A)	XP_011534415.1:p.Glu63ArgfsTer27
XM_011536114.1:c.183del (EPM2A)	XP_011534416.1:p.Glu63ArgfsTer27
XM_011536115.1:c.183del (EPM2A)	XP_011534417.1:p.Glu63ArgfsTer27
NM_001360057.1:c.183del (EPM2A)	NP_001346986.1:p.Glu63ArgfsTer27
NM_001360064.1:c.-114+592del (EPM2A)	NP_001346993.1:n.-114+592del
NM_001360071.1:c.-487del (EPM2A)	NP_001347000.1:n.-487del
NR_153397.1:n.205del (EPM2A)
NR_153398.1:n.114+592del (EPM2A)
XM_011536113.2:c.183del (EPM2A)	XP_011534415.1:p.Glu63ArgfsTer27
XM_024446550.1:c.183del (EPM2A)	XP_024302318.1:p.Glu63ArgfsTer27
NM_005670.4:c.183del (EPM2A) MANE Select	NP_005661.1:p.Glu63ArgfsTer27
NM_001018041.2:c.183del (EPM2A)	NP_001018051.1:p.Glu63ArgfsTer27
NM_001360057.2:c.183del (EPM2A)	NP_001346986.1:p.Glu63ArgfsTer27
NM_001360064.2:c.-114+592del (EPM2A)	NP_001346993.1:n.-114+592del
NM_001360071.2:c.-487del (EPM2A)	NP_001347000.1:n.-487del
NM_001368129.2:c.-441del (EPM2A)	NP_001355058.1:n.-441del
NM_001368130.1:c.183del (EPM2A)	NP_001355059.1:p.Glu63ArgfsTer27
NM_001368131.1:c.-185del (EPM2A)	NP_001355060.1:n.-185del
NR_153398.2:n.116+592del (EPM2A)