Canonical Allele Identifier: CA2680645215

Gene: EPM2A EPM2A-DT

Linked Data

• gnomAD v4: 6-145735334-C-CCTTTTTGTTGAATTCTTCTGACTGGGGAATGATTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145735334_145735335insCTTTTTGTTGAATTCTTCTGACTGGGGAATGATTTT , CM000668.2:g.145735334_145735335insCTTTTTGTTGAATTCTTCTGACTGGGGAATGATTTT	GRCh38
NC_000006.11:g.146056470_146056471insCTTTTTGTTGAATTCTTCTGACTGGGGAATGATTTT , CM000668.1:g.146056470_146056471insCTTTTTGTTGAATTCTTCTGACTGGGGAATGATTTT	GRCh37
NC_000006.10:g.146098163_146098164insCTTTTTGTTGAATTCTTCTGACTGGGGAATGATTTT	NCBI36
NG_012832.1:g.5521_5522insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG
NG_012832.2:g.5521_5522insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.164_165insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A) MANE Select	ENSP00000356489.3:p.Gln55_Glu56insLysSerPheProSerGlnLysAsnSer...
ENST00000435470.2:c.164_165insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	ENSP00000405913.2:p.Gln55_Glu56insLysSerPheProSerGlnLysAsnSer...
ENST00000611340.5:c.-114+661_-114+662insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	ENSP00000480268.1:n.-114+661_-114+662insAAAATCATTCCCCAGTCAGAA...
ENST00000638262.1:c.164_165insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	ENSP00000492876.1:p.Gln55_Glu56insLysSerPheProSerGlnLysAsnSer...
ENST00000639049.1:c.136_137insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)
ENST00000639423.1:c.-114+573_-114+574insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	ENSP00000492701.1:n.-114+573_-114+574insAAAATCATTCCCCAGTCAGAA...
ENST00000639649.1:n.92_93insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)
ENST00000640297.1:n.180_181insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)
ENST00000640898.1:n.82+573_82+574insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)
ENST00000640980.1:c.-114+573_-114+574insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	ENSP00000491191.1:n.-114+573_-114+574insAAAATCATTCCCCAGTCAGAA...
ENST00000367519.7:c.164_165insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	ENSP00000356489.3:p.Gln55_Glu56insLysSerPheProSerGlnLysAsnSer...
ENST00000618445.4:c.164_165insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	ENSP00000480339.1:p.Gln55_Glu56insLysSerPheProSerGlnLysAsnSer...
NM_001018041.1:c.164_165insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	NP_001018051.1:p.Gln55_Glu56insLysSerPheProSerGlnLysAsnSerThr...
NM_005670.3:c.164_165insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	NP_005661.1:p.Gln55_Glu56insLysSerPheProSerGlnLysAsnSerThrLys...
NR_038246.1:n.52+414_52+415insCTTTTTGTTGAATTCTTCTGACTGGGGAATGATTTT (EPM2A-DT)
XM_006715564.2:c.164_165insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	XP_006715627.1:p.Gln55_Glu56insLysSerPheProSerGlnLysAsnSerThr...
XM_011536113.1:c.164_165insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	XP_011534415.1:p.Gln55_Glu56insLysSerPheProSerGlnLysAsnSerThr...
XM_011536114.1:c.164_165insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	XP_011534416.1:p.Gln55_Glu56insLysSerPheProSerGlnLysAsnSerThr...
XM_011536115.1:c.164_165insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	XP_011534417.1:p.Gln55_Glu56insLysSerPheProSerGlnLysAsnSerThr...
NM_001360057.1:c.164_165insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	NP_001346986.1:p.Gln55_Glu56insLysSerPheProSerGlnLysAsnSerThr...
NM_001360064.1:c.-114+573_-114+574insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	NP_001346993.1:n.-114+573_-114+574insAAAATCATTCCCCAGTCAGAAGAA...
NM_001360071.1:c.-506_-505insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	NP_001347000.1:n.-506_-505insAAAATCATTCCCCAGTCAGAAGAATTCAACAA...
NR_153397.1:n.186_187insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)
NR_153398.1:n.114+573_114+574insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)
XM_011536113.2:c.164_165insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	XP_011534415.1:p.Gln55_Glu56insLysSerPheProSerGlnLysAsnSerThr...
XM_024446550.1:c.164_165insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	XP_024302318.1:p.Gln55_Glu56insLysSerPheProSerGlnLysAsnSerThr...
NM_005670.4:c.164_165insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A) MANE Select	NP_005661.1:p.Gln55_Glu56insLysSerPheProSerGlnLysAsnSerThrLys...
NM_001018041.2:c.164_165insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	NP_001018051.1:p.Gln55_Glu56insLysSerPheProSerGlnLysAsnSerThr...
NM_001360057.2:c.164_165insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	NP_001346986.1:p.Gln55_Glu56insLysSerPheProSerGlnLysAsnSerThr...
NM_001360064.2:c.-114+573_-114+574insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	NP_001346993.1:n.-114+573_-114+574insAAAATCATTCCCCAGTCAGAAGAA...
NM_001360071.2:c.-506_-505insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	NP_001347000.1:n.-506_-505insAAAATCATTCCCCAGTCAGAAGAATTCAACAA...
NM_001368129.2:c.-460_-459insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	NP_001355058.1:n.-460_-459insAAAATCATTCCCCAGTCAGAAGAATTCAACAA...
NM_001368130.1:c.164_165insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	NP_001355059.1:p.Gln55_Glu56insLysSerPheProSerGlnLysAsnSerThr...
NM_001368131.1:c.-204_-203insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)	NP_001355060.1:n.-204_-203insAAAATCATTCCCCAGTCAGAAGAATTCAACAA...
NR_153398.2:n.116+573_116+574insAAAATCATTCCCCAGTCAGAAGAATTCAACAAAAAG (EPM2A)