Canonical Allele Identifier: CA314488
Gene: EPM2A HGNC NCBI

Linked Data

ClinVar Variation Id: 205428
dbSNP Id: rs571938170

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.145635343C>T , CM000668.2:g.145635343C>T GRCh38
NC_000006.11:g.145956479C>T , CM000668.1:g.145956479C>T GRCh37
NC_000006.10:g.145998172C>T NCBI36
NG_012832.1:g.105513G>A
NG_012832.2:g.105513G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367519.9:c.620G>A MANE Select ENSP00000356489.3:p.Arg207His
ENST00000435470.2:c.620G>A ENSP00000405913.2:p.Arg207His
ENST00000450221.6:c.242G>A ENSP00000414900.2:p.Arg81His
ENST00000611340.5:c.206G>A ENSP00000480268.1:p.Arg69His
ENST00000638262.1:c.477-7650G>A ENSP00000492876.1:n.477-7650G>A
ENST00000638554.1:c.559G>A ENSP00000492823.1:n.559G>A
ENST00000638717.1:c.403G>A
ENST00000638778.1:c.206G>A ENSP00000491353.1:p.Arg69His
ENST00000638783.1:c.206G>A ENSP00000491338.1:p.Arg69His
ENST00000639049.1:c.847G>A
ENST00000639423.1:c.206G>A ENSP00000492701.1:p.Arg69His
ENST00000639465.1:c.206G>A ENSP00000491180.1:p.Arg69His
ENST00000639648.1:n.201G>A
ENST00000639799.1:n.1161G>A
ENST00000639849.1:c.*154G>A ENSP00000491224.1:n.*154G>A
ENST00000639859.1:n.5944G>A
ENST00000640225.1:c.*154G>A ENSP00000492179.1:n.*154G>A
ENST00000640351.1:c.356G>A
ENST00000640980.1:c.63-7650G>A ENSP00000491191.1:n.63-7650G>A
ENST00000367519.7:c.620G>A ENSP00000356489.3:p.Arg207His
ENST00000435470.1:c.379G>A
ENST00000450221.5:c.319G>A
ENST00000489412.1:n.239G>A
ENST00000496228.1:n.514G>A
ENST00000611340.4:c.206G>A ENSP00000480268.1:p.Arg69His
ENST00000618445.4:c.620G>A ENSP00000480339.1:p.Arg207His
NM_001018041.1:c.620G>A NP_001018051.1:p.Arg207His
NM_005670.3:c.620G>A NP_005661.1:p.Arg207His
XM_006715564.2:c.477-7650G>A XP_006715627.1:n.477-7650G>A
XM_011536113.1:c.620G>A XP_011534415.1:p.Arg207His
XM_011536114.1:c.620G>A XP_011534416.1:p.Arg207His
XM_011536116.1:c.206G>A XP_011534418.1:p.Arg69His
NM_001360057.1:c.477-7650G>A NP_001346986.1:n.477-7650G>A
NM_001360064.1:c.206G>A NP_001346993.1:p.Arg69His
NM_001360071.1:c.206G>A NP_001347000.1:p.Arg69His
NR_153397.1:n.803G>A
NR_153398.1:n.290-7650G>A
XM_011536113.2:c.620G>A XP_011534415.1:p.Arg207His
XM_017011301.1:c.158G>A XP_016866790.1:p.Arg53His
XM_017011302.1:c.158G>A XP_016866791.1:p.Arg53His
XM_024446550.1:c.620G>A XP_024302318.1:p.Arg207His
XM_024446551.1:c.206G>A XP_024302319.1:p.Arg69His
NM_005670.4:c.620G>A MANE Select NP_005661.1:p.Arg207His
NM_001018041.2:c.620G>A NP_001018051.1:p.Arg207His
NM_001360057.2:c.477-7650G>A NP_001346986.1:n.477-7650G>A
NM_001360064.2:c.206G>A NP_001346993.1:p.Arg69His
NM_001360071.2:c.206G>A NP_001347000.1:p.Arg69His
NM_001368129.2:c.158G>A NP_001355058.1:p.Arg53His
NM_001368130.1:c.620G>A NP_001355059.1:p.Arg207His
NM_001368131.1:c.206G>A NP_001355060.1:p.Arg69His
NM_001368132.1:c.158G>A NP_001355061.1:p.Arg53His
NR_153398.2:n.292-7650G>A