Canonical Allele Identifier: CA2680645047

Gene: EPM2A EPM2A-DT

Linked Data

• gnomAD v4: 6-145735098-CCGCCGGGGCCTGCGGGGCCTGCCCGAGGCCGAGGCCCCGGTTGGGGGTGCGGGCCGGAGCTCCCGCTCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145735107_145735176del , CM000668.2:g.145735107_145735176del	GRCh38
NC_000006.11:g.146056243_146056312del , CM000668.1:g.146056243_146056312del	GRCh37
NC_000006.10:g.146097936_146098005del	NCBI36
NG_012832.1:g.5688_5757del
NG_012832.2:g.5688_5757del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.301+30_301+99del (EPM2A) MANE Select	ENSP00000356489.3:n.301+30_301+99del
ENST00000435470.2:c.301+30_301+99del (EPM2A)	ENSP00000405913.2:n.301+30_301+99del
ENST00000611340.5:c.-114+828_-114+897del (EPM2A)	ENSP00000480268.1:n.-114+828_-114+897del
ENST00000638262.1:c.301+30_301+99del (EPM2A)	ENSP00000492876.1:n.301+30_301+99del
ENST00000638554.1:c.79+30_79+99del (EPM2A)	ENSP00000492823.1:n.79+30_79+99del
ENST00000638717.1:c.84+30_84+99del (EPM2A)
ENST00000639049.1:c.273+30_273+99del (EPM2A)
ENST00000639423.1:c.-114+740_-114+809del (EPM2A)	ENSP00000492701.1:n.-114+740_-114+809del
ENST00000639649.1:n.259_328del (EPM2A)
ENST00000640297.1:n.317+30_317+99del (EPM2A)
ENST00000640351.1:c.37+77_37+146del (EPM2A)
ENST00000640898.1:n.82+740_82+809del (EPM2A)
ENST00000640980.1:c.-114+740_-114+809del (EPM2A)	ENSP00000491191.1:n.-114+740_-114+809del
ENST00000367519.7:c.301+30_301+99del (EPM2A)	ENSP00000356489.3:n.301+30_301+99del
ENST00000435470.1:c.60+30_60+99del (EPM2A)
ENST00000618445.4:c.301+30_301+99del (EPM2A)	ENSP00000480339.1:n.301+30_301+99del
NM_001018041.1:c.301+30_301+99del (EPM2A)	NP_001018051.1:n.301+30_301+99del
NM_005670.3:c.301+30_301+99del (EPM2A)	NP_005661.1:n.301+30_301+99del
NR_038246.1:n.52+187_52+256del (EPM2A-DT)
XM_006715564.2:c.301+30_301+99del (EPM2A)	XP_006715627.1:n.301+30_301+99del
XM_011536113.1:c.301+30_301+99del (EPM2A)	XP_011534415.1:n.301+30_301+99del
XM_011536114.1:c.301+30_301+99del (EPM2A)	XP_011534416.1:n.301+30_301+99del
XM_011536115.1:c.301+30_301+99del (EPM2A)	XP_011534417.1:n.301+30_301+99del
NM_001360057.1:c.301+30_301+99del (EPM2A)	NP_001346986.1:n.301+30_301+99del
NM_001360064.1:c.-114+740_-114+809del (EPM2A)	NP_001346993.1:n.-114+740_-114+809del
NM_001360071.1:c.-369+30_-369+99del (EPM2A)	NP_001347000.1:n.-369+30_-369+99del
NR_153397.1:n.323+30_323+99del (EPM2A)
NR_153398.1:n.114+740_114+809del (EPM2A)
XM_011536113.2:c.301+30_301+99del (EPM2A)	XP_011534415.1:n.301+30_301+99del
XM_024446550.1:c.301+30_301+99del (EPM2A)	XP_024302318.1:n.301+30_301+99del
NM_005670.4:c.301+30_301+99del (EPM2A) MANE Select	NP_005661.1:n.301+30_301+99del
NM_001018041.2:c.301+30_301+99del (EPM2A)	NP_001018051.1:n.301+30_301+99del
NM_001360057.2:c.301+30_301+99del (EPM2A)	NP_001346986.1:n.301+30_301+99del
NM_001360064.2:c.-114+740_-114+809del (EPM2A)	NP_001346993.1:n.-114+740_-114+809del
NM_001360071.2:c.-369+30_-369+99del (EPM2A)	NP_001347000.1:n.-369+30_-369+99del
NM_001368129.2:c.-323+30_-323+99del (EPM2A)	NP_001355058.1:n.-323+30_-323+99del
NM_001368130.1:c.301+30_301+99del (EPM2A)	NP_001355059.1:n.301+30_301+99del
NM_001368131.1:c.-114+77_-114+146del (EPM2A)	NP_001355060.1:n.-114+77_-114+146del
NR_153398.2:n.116+740_116+809del (EPM2A)