Canonical Allele Identifier: CA4035184

Gene: EPM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145686260T>C , CM000668.2:g.145686260T>C	GRCh38
NC_000006.11:g.146007396T>C , CM000668.1:g.146007396T>C	GRCh37
NC_000006.10:g.146049089T>C	NCBI36
NG_012832.1:g.54596A>G
NG_012832.2:g.54596A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005670.4:c.338A>G MANE Select	NP_005661.1:p.Asn113Ser
ENST00000367519.9:c.338A>G MANE Select	ENSP00000356489.3:p.Asn113Ser
NM_001018041.1:c.338A>G	NP_001018051.1:p.Asn113Ser
NM_001018041.2:c.338A>G	NP_001018051.1:p.Asn113Ser
NM_001360057.1:c.338A>G	NP_001346986.1:p.Asn113Ser
NM_001360057.2:c.338A>G	NP_001346986.1:p.Asn113Ser
NM_001360064.1:c.-77A>G	NP_001346993.1:n.-77A>G
NM_001360064.2:c.-77A>G	NP_001346993.1:n.-77A>G
NM_001360071.1:c.-77A>G	NP_001347000.1:n.-77A>G
NM_001360071.2:c.-77A>G	NP_001347000.1:n.-77A>G
NM_001368129.2:c.-286A>G	NP_001355058.1:n.-286A>G
NM_001368130.1:c.338A>G	NP_001355059.1:p.Asn113Ser
NM_001368131.1:c.-77A>G	NP_001355060.1:n.-77A>G
NM_001368132.1:c.-286A>G	NP_001355061.1:n.-286A>G
NM_005670.3:c.338A>G	NP_005661.1:p.Asn113Ser
NR_153397.1:n.360A>G
NR_153398.1:n.151A>G
NR_153398.2:n.153A>G
ENST00000367519.7:c.338A>G	ENSP00000356489.3:p.Asn113Ser
ENST00000435470.1:c.97A>G
ENST00000435470.2:c.338A>G	ENSP00000405913.2:p.Asn113Ser
ENST00000450221.5:c.37A>G
ENST00000461700.1:n.116A>G
ENST00000496228.1:n.71A>G
ENST00000496228.2:n.145A>G
ENST00000611340.4:c.-77A>G	ENSP00000480268.1:n.-77A>G
ENST00000611340.5:c.-77A>G	ENSP00000480268.1:n.-77A>G
ENST00000618445.4:c.338A>G	ENSP00000480339.1:p.Asn113Ser
ENST00000638262.1:c.338A>G	ENSP00000492876.1:p.Asn113Ser
ENST00000638554.1:c.116A>G	ENSP00000492823.1:p.Asn39Ser
ENST00000638717.1:c.121A>G
ENST00000638778.1:c.-77A>G	ENSP00000491353.1:n.-77A>G
ENST00000638783.1:c.-77A>G	ENSP00000491338.1:n.-77A>G
ENST00000639049.1:c.565A>G
ENST00000639423.1:c.-77A>G	ENSP00000492701.1:n.-77A>G
ENST00000639465.1:c.-77A>G	ENSP00000491180.1:n.-77A>G
ENST00000639799.1:n.879A>G
ENST00000639849.1:c.-77A>G	ENSP00000491224.1:n.-77A>G
ENST00000640225.1:c.-77A>G	ENSP00000492179.1:n.-77A>G
ENST00000640297.1:n.317+48938A>G
ENST00000640351.1:c.74A>G
ENST00000640426.2:n.50A>G
ENST00000640898.1:n.119A>G
ENST00000640980.1:c.-77A>G	ENSP00000491191.1:n.-77A>G
XM_006715564.2:c.338A>G	XP_006715627.1:p.Asn113Ser
XM_011536113.1:c.338A>G	XP_011534415.1:p.Asn113Ser
XM_011536113.2:c.338A>G	XP_011534415.1:p.Asn113Ser
XM_011536114.1:c.338A>G	XP_011534416.1:p.Asn113Ser
XM_011536115.1:c.338A>G	XP_011534417.1:p.Asn113Ser
XM_011536116.1:c.-77A>G	XP_011534418.1:n.-77A>G
XM_024446550.1:c.338A>G	XP_024302318.1:p.Asn113Ser
XM_024446551.1:c.-77A>G	XP_024302319.1:n.-77A>G