Canonical Allele Identifier: CA4035088
Community Standard Title: NM_005670.4(EPM2A):c.758A>T (p.His253Leu)
Gene: EPM2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.145627654T>A , CM000668.2:g.145627654T>A GRCh38
NC_000006.11:g.145948790T>A , CM000668.1:g.145948790T>A GRCh37
NC_000006.10:g.145990483T>A NCBI36
NG_012832.1:g.113202A>T
NG_012832.2:g.113202A>T

Transcript Alleles

HGVS Amino-acid Change
NM_005670.4:c.758A>T MANE Select NP_005661.1:p.His253Leu
ENST00000367519.9:c.758A>T MANE Select ENSP00000356489.3:p.His253Leu
NM_001018041.1:c.758A>T NP_001018051.1:p.His253Leu
NM_001018041.2:c.758A>T NP_001018051.1:p.His253Leu
NM_001360057.1:c.516A>T NP_001346986.1:p.Ala172=
NM_001360057.2:c.516A>T NP_001346986.1:p.Ala172=
NM_001360064.1:c.344A>T NP_001346993.1:p.His115Leu
NM_001360064.2:c.344A>T NP_001346993.1:p.His115Leu
NM_001360071.1:c.344A>T NP_001347000.1:p.His115Leu
NM_001360071.2:c.344A>T NP_001347000.1:p.His115Leu
NM_001368129.2:c.296A>T NP_001355058.1:p.His99Leu
NM_001368131.1:c.344A>T NP_001355060.1:p.His115Leu
NM_001368132.1:c.296A>T NP_001355061.1:p.His99Leu
NM_005670.3:c.758A>T NP_005661.1:p.His253Leu
NR_153397.1:n.941A>T
NR_153398.1:n.329A>T
NR_153398.2:n.331A>T
ENST00000367519.7:c.758A>T ENSP00000356489.3:p.His253Leu
ENST00000435470.1:c.517A>T
ENST00000435470.2:c.758A>T ENSP00000405913.2:p.His253Leu
ENST00000450221.5:c.417+7591A>T
ENST00000450221.6:c.340+7591A>T ENSP00000414900.2:n.340+7591A>T
ENST00000611340.4:c.344A>T ENSP00000480268.1:p.His115Leu
ENST00000611340.5:c.344A>T ENSP00000480268.1:p.His115Leu
ENST00000618445.4:c.758A>T ENSP00000480339.1:p.His253Leu
ENST00000638262.1:c.516A>T ENSP00000492876.1:p.Ala172=
ENST00000638554.1:c.697A>T ENSP00000492823.1:n.697A>T
ENST00000638597.1:n.215A>T
ENST00000638717.1:c.501+7591A>T
ENST00000638778.1:c.344A>T ENSP00000491353.1:p.His115Leu
ENST00000638783.1:c.344A>T ENSP00000491338.1:p.His115Leu
ENST00000639049.1:c.985A>T
ENST00000639106.1:n.4670A>T
ENST00000639423.1:c.344A>T ENSP00000492701.1:p.His115Leu
ENST00000639465.1:c.344A>T ENSP00000491180.1:p.His115Leu
ENST00000639648.1:n.339A>T
ENST00000639799.1:n.1299A>T
ENST00000639859.1:n.6082A>T
ENST00000640225.1:c.*292A>T ENSP00000492179.1:n.*292A>T
ENST00000640351.1:c.494A>T
ENST00000640980.1:c.102A>T ENSP00000491191.1:p.Ala34=
XM_006715564.2:c.516A>T XP_006715627.1:p.Ala172=
XM_011536113.1:c.718+7591A>T XP_011534415.1:n.718+7591A>T
XM_011536113.2:c.718+7591A>T XP_011534415.1:n.718+7591A>T
XM_011536114.1:c.718+7591A>T XP_011534416.1:n.718+7591A>T
XM_011536116.1:c.344A>T XP_011534418.1:p.His115Leu
XM_017011301.1:c.296A>T XP_016866790.1:p.His99Leu
XM_017011302.1:c.296A>T XP_016866791.1:p.His99Leu
XM_024446550.1:c.718+7591A>T XP_024302318.1:n.718+7591A>T
XM_024446551.1:c.344A>T XP_024302319.1:p.His115Leu