Canonical Allele Identifier: CA4035076

Gene: EPM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145627618T>C , CM000668.2:g.145627618T>C	GRCh38
NC_000006.11:g.145948754T>C , CM000668.1:g.145948754T>C	GRCh37
NC_000006.10:g.145990447T>C	NCBI36
NG_012832.1:g.113238A>G
NG_012832.2:g.113238A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.794A>G MANE Select	ENSP00000356489.3:p.His265Arg
ENST00000435470.2:c.794A>G	ENSP00000405913.2:p.His265Arg
ENST00000450221.6:c.340+7627A>G	ENSP00000414900.2:n.340+7627A>G
ENST00000611340.5:c.380A>G	ENSP00000480268.1:p.His127Arg
ENST00000638262.1:c.552A>G	ENSP00000492876.1:p.Ala184=
ENST00000638554.1:c.733A>G	ENSP00000492823.1:n.733A>G
ENST00000638597.1:n.251A>G
ENST00000638717.1:c.501+7627A>G
ENST00000638778.1:c.380A>G	ENSP00000491353.1:p.His127Arg
ENST00000638783.1:c.380A>G	ENSP00000491338.1:p.His127Arg
ENST00000639049.1:c.1021A>G
ENST00000639106.1:n.4706A>G
ENST00000639423.1:c.380A>G	ENSP00000492701.1:p.His127Arg
ENST00000639465.1:c.380A>G	ENSP00000491180.1:p.His127Arg
ENST00000639648.1:n.375A>G
ENST00000639799.1:n.1335A>G
ENST00000639859.1:n.6118A>G
ENST00000640225.1:c.*328A>G	ENSP00000492179.1:n.*328A>G
ENST00000640351.1:c.530A>G
ENST00000640980.1:c.138A>G	ENSP00000491191.1:p.Ala46=
ENST00000367519.7:c.794A>G	ENSP00000356489.3:p.His265Arg
ENST00000435470.1:c.553A>G
ENST00000450221.5:c.417+7627A>G
ENST00000611340.4:c.380A>G	ENSP00000480268.1:p.His127Arg
ENST00000618445.4:c.794A>G	ENSP00000480339.1:p.His265Arg
NM_001018041.1:c.794A>G	NP_001018051.1:p.His265Arg
NM_005670.3:c.794A>G	NP_005661.1:p.His265Arg
XM_006715564.2:c.552A>G	XP_006715627.1:p.Ala184=
XM_011536113.1:c.718+7627A>G	XP_011534415.1:n.718+7627A>G
XM_011536114.1:c.718+7627A>G	XP_011534416.1:n.718+7627A>G
XM_011536116.1:c.380A>G	XP_011534418.1:p.His127Arg
NM_001360057.1:c.552A>G	NP_001346986.1:p.Ala184=
NM_001360064.1:c.380A>G	NP_001346993.1:p.His127Arg
NM_001360071.1:c.380A>G	NP_001347000.1:p.His127Arg
NR_153397.1:n.977A>G
NR_153398.1:n.365A>G
XM_011536113.2:c.718+7627A>G	XP_011534415.1:n.718+7627A>G
XM_017011301.1:c.332A>G	XP_016866790.1:p.His111Arg
XM_017011302.1:c.332A>G	XP_016866791.1:p.His111Arg
XM_024446550.1:c.718+7627A>G	XP_024302318.1:n.718+7627A>G
XM_024446551.1:c.380A>G	XP_024302319.1:p.His127Arg
NM_005670.4:c.794A>G MANE Select	NP_005661.1:p.His265Arg
NM_001018041.2:c.794A>G	NP_001018051.1:p.His265Arg
NM_001360057.2:c.552A>G	NP_001346986.1:p.Ala184=
NM_001360064.2:c.380A>G	NP_001346993.1:p.His127Arg
NM_001360071.2:c.380A>G	NP_001347000.1:p.His127Arg
NM_001368129.2:c.332A>G	NP_001355058.1:p.His111Arg
NM_001368131.1:c.380A>G	NP_001355060.1:p.His127Arg
NM_001368132.1:c.332A>G	NP_001355061.1:p.His111Arg
NR_153398.2:n.367A>G