Canonical Allele Identifier: CA1670236150

Gene: EPM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145627691G= , CM000668.2:g.145627691G=	GRCh38
NC_000006.11:g.145948827G= , CM000668.1:g.145948827G=	GRCh37
NC_000006.10:g.145990520G=	NCBI36
NG_012832.1:g.113165C=
NG_012832.2:g.113165C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.721C= MANE Select	ENSP00000356489.3:p.Arg241=
ENST00000435470.2:c.721C=	ENSP00000405913.2:p.Arg241=
ENST00000450221.6:c.340+7554C=	ENSP00000414900.2:n.340+7554C=
ENST00000611340.5:c.307C=	ENSP00000480268.1:p.Arg103=
ENST00000638262.1:c.479C=	ENSP00000492876.1:p.Pro160=
ENST00000638554.1:c.660C=	ENSP00000492823.1:n.660C=
ENST00000638597.1:n.178C=
ENST00000638717.1:c.501+7554C=
ENST00000638778.1:c.307C=	ENSP00000491353.1:p.Arg103=
ENST00000638783.1:c.307C=	ENSP00000491338.1:p.Arg103=
ENST00000639049.1:c.948C=
ENST00000639106.1:n.4633C=
ENST00000639423.1:c.307C=	ENSP00000492701.1:p.Arg103=
ENST00000639465.1:c.307C=	ENSP00000491180.1:p.Arg103=
ENST00000639648.1:n.302C=
ENST00000639799.1:n.1262C=
ENST00000639859.1:n.6045C=
ENST00000640225.1:c.*255C=	ENSP00000492179.1:n.*255C=
ENST00000640351.1:c.457C=
ENST00000640980.1:c.65C=	ENSP00000491191.1:p.Pro22=
ENST00000367519.7:c.721C=	ENSP00000356489.3:p.Arg241=
ENST00000435470.1:c.480C=
ENST00000450221.5:c.417+7554C=
ENST00000611340.4:c.307C=	ENSP00000480268.1:p.Arg103=
ENST00000618445.4:c.721C=	ENSP00000480339.1:p.Arg241=
NM_001018041.1:c.721C=	NP_001018051.1:p.Arg241=
NM_005670.3:c.721C=	NP_005661.1:p.Arg241=
XM_006715564.2:c.479C=	XP_006715627.1:p.Pro160=
XM_011536113.1:c.718+7554C=	XP_011534415.1:n.718+7554C=
XM_011536114.1:c.718+7554C=	XP_011534416.1:n.718+7554C=
XM_011536116.1:c.307C=	XP_011534418.1:p.Arg103=
NM_001360057.1:c.479C=	NP_001346986.1:p.Pro160=
NM_001360064.1:c.307C=	NP_001346993.1:p.Arg103=
NM_001360071.1:c.307C=	NP_001347000.1:p.Arg103=
NR_153397.1:n.904C=
NR_153398.1:n.292C=
XM_011536113.2:c.718+7554C=	XP_011534415.1:n.718+7554C=
XM_017011301.1:c.259C=	XP_016866790.1:p.Arg87=
XM_017011302.1:c.259C=	XP_016866791.1:p.Arg87=
XM_024446550.1:c.718+7554C=	XP_024302318.1:n.718+7554C=
XM_024446551.1:c.307C=	XP_024302319.1:p.Arg103=
NM_005670.4:c.721C= MANE Select	NP_005661.1:p.Arg241=
NM_001018041.2:c.721C=	NP_001018051.1:p.Arg241=
NM_001360057.2:c.479C=	NP_001346986.1:p.Pro160=
NM_001360064.2:c.307C=	NP_001346993.1:p.Arg103=
NM_001360071.2:c.307C=	NP_001347000.1:p.Arg103=
NM_001368129.2:c.259C=	NP_001355058.1:p.Arg87=
NM_001368131.1:c.307C=	NP_001355060.1:p.Arg103=
NM_001368132.1:c.259C=	NP_001355061.1:p.Arg87=
NR_153398.2:n.294C=