Canonical Allele Identifier: CA16621849

Gene: EPM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145627495T>A , CM000668.2:g.145627495T>A	GRCh38
NC_000006.11:g.145948631T>A , CM000668.1:g.145948631T>A	GRCh37
NC_000006.10:g.145990324T>A	NCBI36
NG_012832.1:g.113361A>T
NG_012832.2:g.113361A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005670.4:c.917A>T MANE Select	NP_005661.1:p.Asp306Val
ENST00000367519.9:c.917A>T MANE Select	ENSP00000356489.3:p.Asp306Val
NM_001018041.1:c.917A>T	NP_001018051.1:p.Asp306Val
NM_001018041.2:c.917A>T	NP_001018051.1:p.Asp306Val
NM_001360057.1:c.675A>T	NP_001346986.1:p.Ter225Cys
NM_001360057.2:c.675A>T	NP_001346986.1:p.Ter225Cys
NM_001360064.1:c.503A>T	NP_001346993.1:p.Asp168Val
NM_001360064.2:c.503A>T	NP_001346993.1:p.Asp168Val
NM_001360071.1:c.503A>T	NP_001347000.1:p.Asp168Val
NM_001360071.2:c.503A>T	NP_001347000.1:p.Asp168Val
NM_001368129.2:c.455A>T	NP_001355058.1:p.Asp152Val
NM_001368131.1:c.503A>T	NP_001355060.1:p.Asp168Val
NM_001368132.1:c.455A>T	NP_001355061.1:p.Asp152Val
NM_005670.3:c.917A>T	NP_005661.1:p.Asp306Val
NR_153397.1:n.1100A>T
NR_153398.1:n.488A>T
NR_153398.2:n.490A>T
ENST00000367519.7:c.917A>T	ENSP00000356489.3:p.Asp306Val
ENST00000435470.1:c.676A>T
ENST00000435470.2:c.917A>T	ENSP00000405913.2:p.Asp306Val
ENST00000450221.5:c.417+7750A>T
ENST00000450221.6:c.340+7750A>T	ENSP00000414900.2:n.340+7750A>T
ENST00000611340.4:c.503A>T	ENSP00000480268.1:p.Asp168Val
ENST00000611340.5:c.503A>T	ENSP00000480268.1:p.Asp168Val
ENST00000618445.4:c.917A>T	ENSP00000480339.1:p.Asp306Val
ENST00000638262.1:c.675A>T	ENSP00000492876.1:p.Ter225Cys
ENST00000638554.1:c.856A>T	ENSP00000492823.1:n.856A>T
ENST00000638597.1:n.374A>T
ENST00000638717.1:c.501+7750A>T
ENST00000638778.1:c.503A>T	ENSP00000491353.1:p.Asp168Val
ENST00000638783.1:c.503A>T	ENSP00000491338.1:p.Asp168Val
ENST00000639049.1:c.1144A>T
ENST00000639106.1:n.4829A>T
ENST00000639423.1:c.503A>T	ENSP00000492701.1:p.Asp168Val
ENST00000639465.1:c.503A>T	ENSP00000491180.1:p.Asp168Val
ENST00000639648.1:n.498A>T
ENST00000639799.1:n.1458A>T
ENST00000639859.1:n.6241A>T
ENST00000640225.1:c.*451A>T	ENSP00000492179.1:n.*451A>T
ENST00000640351.1:c.653A>T
ENST00000640980.1:c.261A>T	ENSP00000491191.1:p.Ter87Cys
XM_006715564.2:c.675A>T	XP_006715627.1:p.Ter225Cys
XM_011536113.1:c.718+7750A>T	XP_011534415.1:n.718+7750A>T
XM_011536113.2:c.718+7750A>T	XP_011534415.1:n.718+7750A>T
XM_011536114.1:c.718+7750A>T	XP_011534416.1:n.718+7750A>T
XM_011536116.1:c.503A>T	XP_011534418.1:p.Asp168Val
XM_017011301.1:c.455A>T	XP_016866790.1:p.Asp152Val
XM_017011302.1:c.455A>T	XP_016866791.1:p.Asp152Val
XM_024446550.1:c.718+7750A>T	XP_024302318.1:n.718+7750A>T
XM_024446551.1:c.503A>T	XP_024302319.1:p.Asp168Val