Canonical Allele Identifier: CA232476

Gene: EPM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145627697C>T , CM000668.2:g.145627697C>T	GRCh38
NC_000006.11:g.145948833C>T , CM000668.1:g.145948833C>T	GRCh37
NC_000006.10:g.145990526C>T	NCBI36
NG_012832.1:g.113159G>A
NG_012832.2:g.113159G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005670.4:c.719-4G>A MANE Select	NP_005661.1:n.719-4G>A
ENST00000367519.9:c.719-4G>A MANE Select	ENSP00000356489.3:n.719-4G>A
NM_001018041.1:c.719-4G>A	NP_001018051.1:n.719-4G>A
NM_001018041.2:c.719-4G>A	NP_001018051.1:n.719-4G>A
NM_001360057.1:c.477-4G>A	NP_001346986.1:n.477-4G>A
NM_001360057.2:c.477-4G>A	NP_001346986.1:n.477-4G>A
NM_001360064.1:c.305-4G>A	NP_001346993.1:n.305-4G>A
NM_001360064.2:c.305-4G>A	NP_001346993.1:n.305-4G>A
NM_001360071.1:c.305-4G>A	NP_001347000.1:n.305-4G>A
NM_001360071.2:c.305-4G>A	NP_001347000.1:n.305-4G>A
NM_001368129.2:c.257-4G>A	NP_001355058.1:n.257-4G>A
NM_001368131.1:c.305-4G>A	NP_001355060.1:n.305-4G>A
NM_001368132.1:c.257-4G>A	NP_001355061.1:n.257-4G>A
NM_005670.3:c.719-4G>A	NP_005661.1:n.719-4G>A
NR_153397.1:n.902-4G>A
NR_153398.1:n.290-4G>A
NR_153398.2:n.292-4G>A
ENST00000367519.7:c.719-4G>A	ENSP00000356489.3:n.719-4G>A
ENST00000435470.1:c.478-4G>A
ENST00000435470.2:c.719-4G>A	ENSP00000405913.2:n.719-4G>A
ENST00000450221.5:c.417+7548G>A
ENST00000450221.6:c.340+7548G>A	ENSP00000414900.2:n.340+7548G>A
ENST00000611340.4:c.305-4G>A	ENSP00000480268.1:n.305-4G>A
ENST00000611340.5:c.305-4G>A	ENSP00000480268.1:n.305-4G>A
ENST00000618445.4:c.719-4G>A	ENSP00000480339.1:n.719-4G>A
ENST00000638262.1:c.477-4G>A	ENSP00000492876.1:n.477-4G>A
ENST00000638554.1:c.658-4G>A	ENSP00000492823.1:n.658-4G>A
ENST00000638597.1:n.176-4G>A
ENST00000638717.1:c.501+7548G>A
ENST00000638778.1:c.305-4G>A	ENSP00000491353.1:n.305-4G>A
ENST00000638783.1:c.305-4G>A	ENSP00000491338.1:n.305-4G>A
ENST00000639049.1:c.946-4G>A
ENST00000639106.1:n.4627G>A
ENST00000639423.1:c.305-4G>A	ENSP00000492701.1:n.305-4G>A
ENST00000639465.1:c.305-4G>A	ENSP00000491180.1:n.305-4G>A
ENST00000639648.1:n.300-4G>A
ENST00000639799.1:n.1260-4G>A
ENST00000639859.1:n.6043-4G>A
ENST00000640225.1:c.*253-4G>A	ENSP00000492179.1:n.*253-4G>A
ENST00000640351.1:c.455-4G>A
ENST00000640980.1:c.63-4G>A	ENSP00000491191.1:n.63-4G>A
XM_006715564.2:c.477-4G>A	XP_006715627.1:n.477-4G>A
XM_011536113.1:c.718+7548G>A	XP_011534415.1:n.718+7548G>A
XM_011536113.2:c.718+7548G>A	XP_011534415.1:n.718+7548G>A
XM_011536114.1:c.718+7548G>A	XP_011534416.1:n.718+7548G>A
XM_011536116.1:c.305-4G>A	XP_011534418.1:n.305-4G>A
XM_017011301.1:c.257-4G>A	XP_016866790.1:n.257-4G>A
XM_017011302.1:c.257-4G>A	XP_016866791.1:n.257-4G>A
XM_024446550.1:c.718+7548G>A	XP_024302318.1:n.718+7548G>A
XM_024446551.1:c.305-4G>A	XP_024302319.1:n.305-4G>A