Canonical Allele Identifier: CA366188025
Gene: EPM2A HGNC NCBI
EPM2A-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 1046134
ClinVar RCV Id: RCV001350651
dbSNP Id: rs1263035227

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.145735287G>T , CM000668.2:g.145735287G>T GRCh38
NC_000006.11:g.146056423G>T , CM000668.1:g.146056423G>T GRCh37
NC_000006.10:g.146098116G>T NCBI36
NG_012832.1:g.5569C>A
NG_012832.2:g.5569C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367519.9:c.212C>A (EPM2A) MANE Select ENSP00000356489.3:p.Ala71Glu
ENST00000435470.2:c.212C>A (EPM2A) ENSP00000405913.2:p.Ala71Glu
ENST00000611340.5:c.-114+709C>A (EPM2A) ENSP00000480268.1:n.-114+709C>A
ENST00000638262.1:c.212C>A (EPM2A) ENSP00000492876.1:p.Ala71Glu
ENST00000639049.1:c.184C>A (EPM2A)
ENST00000639423.1:c.-114+621C>A (EPM2A) ENSP00000492701.1:n.-114+621C>A
ENST00000639649.1:n.140C>A (EPM2A)
ENST00000640297.1:n.228C>A (EPM2A)
ENST00000640898.1:n.82+621C>A (EPM2A)
ENST00000640980.1:c.-114+621C>A (EPM2A) ENSP00000491191.1:n.-114+621C>A
ENST00000367519.7:c.212C>A (EPM2A) ENSP00000356489.3:p.Ala71Glu
ENST00000618445.4:c.212C>A (EPM2A) ENSP00000480339.1:p.Ala71Glu
NM_001018041.1:c.212C>A (EPM2A) NP_001018051.1:p.Ala71Glu
NM_005670.3:c.212C>A (EPM2A) NP_005661.1:p.Ala71Glu
NR_038246.1:n.52+367G>T (EPM2A-DT)
XM_006715564.2:c.212C>A (EPM2A) XP_006715627.1:p.Ala71Glu
XM_011536113.1:c.212C>A (EPM2A) XP_011534415.1:p.Ala71Glu
XM_011536114.1:c.212C>A (EPM2A) XP_011534416.1:p.Ala71Glu
XM_011536115.1:c.212C>A (EPM2A) XP_011534417.1:p.Ala71Glu
NM_001360057.1:c.212C>A (EPM2A) NP_001346986.1:p.Ala71Glu
NM_001360064.1:c.-114+621C>A (EPM2A) NP_001346993.1:n.-114+621C>A
NM_001360071.1:c.-458C>A (EPM2A) NP_001347000.1:n.-458C>A
NR_153397.1:n.234C>A (EPM2A)
NR_153398.1:n.114+621C>A (EPM2A)
XM_011536113.2:c.212C>A (EPM2A) XP_011534415.1:p.Ala71Glu
XM_024446550.1:c.212C>A (EPM2A) XP_024302318.1:p.Ala71Glu
NM_005670.4:c.212C>A (EPM2A) MANE Select NP_005661.1:p.Ala71Glu
NM_001018041.2:c.212C>A (EPM2A) NP_001018051.1:p.Ala71Glu
NM_001360057.2:c.212C>A (EPM2A) NP_001346986.1:p.Ala71Glu
NM_001360064.2:c.-114+621C>A (EPM2A) NP_001346993.1:n.-114+621C>A
NM_001360071.2:c.-458C>A (EPM2A) NP_001347000.1:n.-458C>A
NM_001368129.2:c.-412C>A (EPM2A) NP_001355058.1:n.-412C>A
NM_001368130.1:c.212C>A (EPM2A) NP_001355059.1:p.Ala71Glu
NM_001368131.1:c.-156C>A (EPM2A) NP_001355060.1:n.-156C>A
NR_153398.2:n.116+621C>A (EPM2A)