Canonical Allele Identifier: CA2740795690

Gene: EPM2A EPM2A-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145735202_145735203insGGGTTTA , CM000668.2:g.145735202_145735203insGGGTTTA	GRCh38
NC_000006.11:g.146056338_146056339insGGGTTTA , CM000668.1:g.146056338_146056339insGGGTTTA	GRCh37
NC_000006.10:g.146098031_146098032insGGGTTTA	NCBI36
NG_012832.1:g.5653_5654insTAAACCC
NG_012832.2:g.5653_5654insTAAACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.296_297insTAAACCC (EPM2A) MANE Select	ENSP00000356489.3:p.Trp99CysfsTer11
ENST00000435470.2:c.296_297insTAAACCC (EPM2A)	ENSP00000405913.2:p.Trp99CysfsTer11
ENST00000611340.5:c.-114+793_-114+794insTAAACCC (EPM2A)	ENSP00000480268.1:n.-114+793_-114+794insTAAACCC
ENST00000638262.1:c.296_297insTAAACCC (EPM2A)	ENSP00000492876.1:p.Trp99CysfsTer11
ENST00000638554.1:c.74_75insTAAACCC (EPM2A)	ENSP00000492823.1:p.Trp25CysfsTer11
ENST00000638717.1:c.79_80insTAAACCC (EPM2A)
ENST00000639049.1:c.268_269insTAAACCC (EPM2A)
ENST00000639423.1:c.-114+705_-114+706insTAAACCC (EPM2A)	ENSP00000492701.1:n.-114+705_-114+706insTAAACCC
ENST00000639649.1:n.224_225insTAAACCC (EPM2A)
ENST00000640297.1:n.312_313insTAAACCC (EPM2A)
ENST00000640351.1:c.37+42_37+43insTAAACCC (EPM2A)
ENST00000640898.1:n.82+705_82+706insTAAACCC (EPM2A)
ENST00000640980.1:c.-114+705_-114+706insTAAACCC (EPM2A)	ENSP00000491191.1:n.-114+705_-114+706insTAAACCC
ENST00000367519.7:c.296_297insTAAACCC (EPM2A)	ENSP00000356489.3:p.Trp99CysfsTer11
ENST00000435470.1:c.55_56insTAAACCC (EPM2A)
ENST00000618445.4:c.296_297insTAAACCC (EPM2A)	ENSP00000480339.1:p.Trp99CysfsTer11
NM_001018041.1:c.296_297insTAAACCC (EPM2A)	NP_001018051.1:p.Trp99CysfsTer11
NM_005670.3:c.296_297insTAAACCC (EPM2A)	NP_005661.1:p.Trp99CysfsTer11
NR_038246.1:n.52+282_52+283insGGGTTTA (EPM2A-DT)
XM_006715564.2:c.296_297insTAAACCC (EPM2A)	XP_006715627.1:p.Trp99CysfsTer11
XM_011536113.1:c.296_297insTAAACCC (EPM2A)	XP_011534415.1:p.Trp99CysfsTer11
XM_011536114.1:c.296_297insTAAACCC (EPM2A)	XP_011534416.1:p.Trp99CysfsTer11
XM_011536115.1:c.296_297insTAAACCC (EPM2A)	XP_011534417.1:p.Trp99CysfsTer11
NM_001360057.1:c.296_297insTAAACCC (EPM2A)	NP_001346986.1:p.Trp99CysfsTer11
NM_001360064.1:c.-114+705_-114+706insTAAACCC (EPM2A)	NP_001346993.1:n.-114+705_-114+706insTAAACCC
NM_001360071.1:c.-374_-373insTAAACCC (EPM2A)	NP_001347000.1:n.-374_-373insTAAACCC
NR_153397.1:n.318_319insTAAACCC (EPM2A)
NR_153398.1:n.114+705_114+706insTAAACCC (EPM2A)
XM_011536113.2:c.296_297insTAAACCC (EPM2A)	XP_011534415.1:p.Trp99CysfsTer11
XM_024446550.1:c.296_297insTAAACCC (EPM2A)	XP_024302318.1:p.Trp99CysfsTer11
NM_005670.4:c.296_297insTAAACCC (EPM2A) MANE Select	NP_005661.1:p.Trp99CysfsTer11
NM_001018041.2:c.296_297insTAAACCC (EPM2A)	NP_001018051.1:p.Trp99CysfsTer11
NM_001360057.2:c.296_297insTAAACCC (EPM2A)	NP_001346986.1:p.Trp99CysfsTer11
NM_001360064.2:c.-114+705_-114+706insTAAACCC (EPM2A)	NP_001346993.1:n.-114+705_-114+706insTAAACCC
NM_001360071.2:c.-374_-373insTAAACCC (EPM2A)	NP_001347000.1:n.-374_-373insTAAACCC
NM_001368129.2:c.-328_-327insTAAACCC (EPM2A)	NP_001355058.1:n.-328_-327insTAAACCC
NM_001368130.1:c.296_297insTAAACCC (EPM2A)	NP_001355059.1:p.Trp99CysfsTer11
NM_001368131.1:c.-114+42_-114+43insTAAACCC (EPM2A)	NP_001355060.1:n.-114+42_-114+43insTAAACCC
NR_153398.2:n.116+705_116+706insTAAACCC (EPM2A)