Canonical Allele Identifier: CA2740795689

Gene: EPM2A EPM2A-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145735201_145735202insGA , CM000668.2:g.145735201_145735202insGA	GRCh38
NC_000006.11:g.146056337_146056338insGA , CM000668.1:g.146056337_146056338insGA	GRCh37
NC_000006.10:g.146098030_146098031insGA	NCBI36
NG_012832.1:g.5654_5655insTC
NG_012832.2:g.5654_5655insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.297_298insTC (EPM2A) MANE Select	ENSP00000356489.3:p.Glu100SerfsTer28
ENST00000435470.2:c.297_298insTC (EPM2A)	ENSP00000405913.2:p.Glu100SerfsTer28
ENST00000611340.5:c.-114+794_-114+795insTC (EPM2A)	ENSP00000480268.1:n.-114+794_-114+795insTC
ENST00000638262.1:c.297_298insTC (EPM2A)	ENSP00000492876.1:p.Glu100SerfsTer28
ENST00000638554.1:c.75_76insTC (EPM2A)	ENSP00000492823.1:p.Glu26SerfsTer28
ENST00000638717.1:c.80_81insTC (EPM2A)
ENST00000639049.1:c.269_270insTC (EPM2A)
ENST00000639423.1:c.-114+706_-114+707insTC (EPM2A)	ENSP00000492701.1:n.-114+706_-114+707insTC
ENST00000639649.1:n.225_226insTC (EPM2A)
ENST00000640297.1:n.313_314insTC (EPM2A)
ENST00000640351.1:c.37+43_37+44insTC (EPM2A)
ENST00000640898.1:n.82+706_82+707insTC (EPM2A)
ENST00000640980.1:c.-114+706_-114+707insTC (EPM2A)	ENSP00000491191.1:n.-114+706_-114+707insTC
ENST00000367519.7:c.297_298insTC (EPM2A)	ENSP00000356489.3:p.Glu100SerfsTer28
ENST00000435470.1:c.56_57insTC (EPM2A)
ENST00000618445.4:c.297_298insTC (EPM2A)	ENSP00000480339.1:p.Glu100SerfsTer28
NM_001018041.1:c.297_298insTC (EPM2A)	NP_001018051.1:p.Glu100SerfsTer28
NM_005670.3:c.297_298insTC (EPM2A)	NP_005661.1:p.Glu100SerfsTer28
NR_038246.1:n.52+281_52+282insGA (EPM2A-DT)
XM_006715564.2:c.297_298insTC (EPM2A)	XP_006715627.1:p.Glu100SerfsTer28
XM_011536113.1:c.297_298insTC (EPM2A)	XP_011534415.1:p.Glu100SerfsTer28
XM_011536114.1:c.297_298insTC (EPM2A)	XP_011534416.1:p.Glu100SerfsTer28
XM_011536115.1:c.297_298insTC (EPM2A)	XP_011534417.1:p.Glu100SerfsTer28
NM_001360057.1:c.297_298insTC (EPM2A)	NP_001346986.1:p.Glu100SerfsTer28
NM_001360064.1:c.-114+706_-114+707insTC (EPM2A)	NP_001346993.1:n.-114+706_-114+707insTC
NM_001360071.1:c.-373_-372insTC (EPM2A)	NP_001347000.1:n.-373_-372insTC
NR_153397.1:n.319_320insTC (EPM2A)
NR_153398.1:n.114+706_114+707insTC (EPM2A)
XM_011536113.2:c.297_298insTC (EPM2A)	XP_011534415.1:p.Glu100SerfsTer28
XM_024446550.1:c.297_298insTC (EPM2A)	XP_024302318.1:p.Glu100SerfsTer28
NM_005670.4:c.297_298insTC (EPM2A) MANE Select	NP_005661.1:p.Glu100SerfsTer28
NM_001018041.2:c.297_298insTC (EPM2A)	NP_001018051.1:p.Glu100SerfsTer28
NM_001360057.2:c.297_298insTC (EPM2A)	NP_001346986.1:p.Glu100SerfsTer28
NM_001360064.2:c.-114+706_-114+707insTC (EPM2A)	NP_001346993.1:n.-114+706_-114+707insTC
NM_001360071.2:c.-373_-372insTC (EPM2A)	NP_001347000.1:n.-373_-372insTC
NM_001368129.2:c.-327_-326insTC (EPM2A)	NP_001355058.1:n.-327_-326insTC
NM_001368130.1:c.297_298insTC (EPM2A)	NP_001355059.1:p.Glu100SerfsTer28
NM_001368131.1:c.-114+43_-114+44insTC (EPM2A)	NP_001355060.1:n.-114+43_-114+44insTC
NR_153398.2:n.116+706_116+707insTC (EPM2A)