Canonical Allele Identifier: CA2680645236

Gene: EPM2A EPM2A-DT

Linked Data

• gnomAD v4: 6-145735421-CCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145735424_145735425del , CM000668.2:g.145735424_145735425del	GRCh38
NC_000006.11:g.146056560_146056561del , CM000668.1:g.146056560_146056561del	GRCh37
NC_000006.10:g.146098253_146098254del	NCBI36
NG_012832.1:g.5433_5434del
NG_012832.2:g.5433_5434del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.76_77del (EPM2A) MANE Select	ENSP00000356489.3:p.Arg26AlafsTer?
ENST00000435470.2:c.76_77del (EPM2A)	ENSP00000405913.2:p.Arg26AlafsTer?
ENST00000611340.5:c.-114+573_-114+574del (EPM2A)	ENSP00000480268.1:n.-114+573_-114+574del
ENST00000638262.1:c.76_77del (EPM2A)	ENSP00000492876.1:p.Arg26AlafsTer?
ENST00000639049.1:c.48_49del (EPM2A)
ENST00000639423.1:c.-114+485_-114+486del (EPM2A)	ENSP00000492701.1:n.-114+485_-114+486del
ENST00000639649.1:n.4_5del (EPM2A)
ENST00000640297.1:n.92_93del (EPM2A)
ENST00000640898.1:n.82+485_82+486del (EPM2A)
ENST00000640980.1:c.-114+485_-114+486del (EPM2A)	ENSP00000491191.1:n.-114+485_-114+486del
ENST00000367519.7:c.76_77del (EPM2A)	ENSP00000356489.3:p.Arg26AlafsTer?
ENST00000618445.4:c.76_77del (EPM2A)	ENSP00000480339.1:p.Arg26AlafsTer?
NM_001018041.1:c.76_77del (EPM2A)	NP_001018051.1:p.Arg26AlafsTer?
NM_005670.3:c.76_77del (EPM2A)	NP_005661.1:p.Arg26AlafsTer?
NR_038246.1:n.52+504_52+505del (EPM2A-DT)
XM_006715564.2:c.76_77del (EPM2A)	XP_006715627.1:p.Arg26AlafsTer?
XM_011536113.1:c.76_77del (EPM2A)	XP_011534415.1:p.Arg26AlafsTer?
XM_011536114.1:c.76_77del (EPM2A)	XP_011534416.1:p.Arg26AlafsTer?
XM_011536115.1:c.76_77del (EPM2A)	XP_011534417.1:p.Arg26AlafsTer?
NM_001360057.1:c.76_77del (EPM2A)	NP_001346986.1:p.Arg26AlafsTer?
NM_001360064.1:c.-114+485_-114+486del (EPM2A)	NP_001346993.1:n.-114+485_-114+486del
NM_001360071.1:c.-594_-593del (EPM2A)	NP_001347000.1:n.-594_-593del
NR_153397.1:n.98_99del (EPM2A)
NR_153398.1:n.114+485_114+486del (EPM2A)
XM_011536113.2:c.76_77del (EPM2A)	XP_011534415.1:p.Arg26AlafsTer?
XM_024446550.1:c.76_77del (EPM2A)	XP_024302318.1:p.Arg26AlafsTer?
NM_005670.4:c.76_77del (EPM2A) MANE Select	NP_005661.1:p.Arg26AlafsTer?
NM_001018041.2:c.76_77del (EPM2A)	NP_001018051.1:p.Arg26AlafsTer?
NM_001360057.2:c.76_77del (EPM2A)	NP_001346986.1:p.Arg26AlafsTer?
NM_001360064.2:c.-114+485_-114+486del (EPM2A)	NP_001346993.1:n.-114+485_-114+486del
NM_001360071.2:c.-594_-593del (EPM2A)	NP_001347000.1:n.-594_-593del
NM_001368129.2:c.-548_-547del (EPM2A)	NP_001355058.1:n.-548_-547del
NM_001368130.1:c.76_77del (EPM2A)	NP_001355059.1:p.Arg26AlafsTer?
NM_001368131.1:c.-292_-291del (EPM2A)	NP_001355060.1:n.-292_-291del
NR_153398.2:n.116+485_116+486del (EPM2A)