Canonical Allele Identifier: CA252546
Gene: EPM2A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3102
dbSNP Id: rs137852916

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.145635451C>T , CM000668.2:g.145635451C>T GRCh38
NC_000006.11:g.145956587C>T , CM000668.1:g.145956587C>T GRCh37
NC_000006.10:g.145998280C>T NCBI36
NG_012832.1:g.105405G>A
NG_012832.2:g.105405G>A

Transcript Alleles

HGVS Amino-acid change
NM_001018041.1:c.512G>A VV NP_001018051.1:p.Arg171His
NM_005670.3:c.512G>A VV NP_005661.1:p.Arg171His
XM_006715564.2:c.477-7758G>A XP_006715627.1:p.=
XM_011536113.1:c.512G>A XP_011534415.1:p.Arg171His
XM_011536114.1:c.512G>A XP_011534416.1:p.Arg171His
XM_011536116.1:c.98G>A XP_011534418.1:p.Arg33His
NM_001360057.1:c.477-7758G>A VV NP_001346986.1:p.=
NM_001360064.1:c.98G>A VV NP_001346993.1:p.Arg33His
NM_001360071.1:c.98G>A VV NP_001347000.1:p.Arg33His
NR_153397.1:n.695G>A
NR_153398.1:n.290-7758G>A
XM_011536113.2:c.512G>A XP_011534415.1:p.Arg171His
XM_017011301.1:c.50G>A XP_016866790.1:p.Arg17His
XM_017011302.1:c.50G>A XP_016866791.1:p.Arg17His
XM_024446550.1:c.512G>A XP_024302318.1:p.Arg171His
XM_024446551.1:c.98G>A XP_024302319.1:p.Arg33His
NM_005670.4:c.512G>A VV MANE Preferred NP_005661.1:p.Arg171His
ENST00000367519.7:c.512G>A ENSP00000356489.3:p.Arg171His
ENST00000435470.1:n.271G>A
ENST00000450221.5:n.211G>A
ENST00000489412.1:n.131G>A
ENST00000496228.1:n.406G>A
ENST00000611340.4:c.98G>A ENSP00000480268.1:p.Arg33His
ENST00000618445.4:c.512G>A ENSP00000480339.1:p.Arg171His