Canonical Allele Identifier: CA366188311

Gene: EPM2A

Linked Data

• MyVariant Identifiers: chr6:g.146007301A>G (hg19) ; chr6:g.145686165A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145686165A>G , CM000668.2:g.145686165A>G	GRCh38
NC_000006.11:g.146007301A>G , CM000668.1:g.146007301A>G	GRCh37
NC_000006.10:g.146048994A>G	NCBI36
NG_012832.1:g.54691T>C
NG_012832.2:g.54691T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.433T>C MANE Select	ENSP00000356489.3:p.Phe145Leu
ENST00000435470.2:c.433T>C	ENSP00000405913.2:p.Phe145Leu
ENST00000450221.6:c.55T>C	ENSP00000414900.2:p.Phe19Leu
ENST00000496228.2:n.240T>C
ENST00000611340.5:c.19T>C	ENSP00000480268.1:p.Phe7Leu
ENST00000638262.1:c.433T>C	ENSP00000492876.1:p.Phe145Leu
ENST00000638554.1:c.211T>C	ENSP00000492823.1:p.Phe71Leu
ENST00000638717.1:c.216T>C
ENST00000638778.1:c.19T>C	ENSP00000491353.1:p.Phe7Leu
ENST00000638783.1:c.19T>C	ENSP00000491338.1:p.Phe7Leu
ENST00000639049.1:c.660T>C
ENST00000639423.1:c.19T>C	ENSP00000492701.1:p.Phe7Leu
ENST00000639465.1:c.19T>C	ENSP00000491180.1:p.Phe7Leu
ENST00000639799.1:n.974T>C
ENST00000639849.1:c.19T>C	ENSP00000491224.1:p.Phe7Leu
ENST00000640225.1:c.19T>C	ENSP00000492179.1:p.Phe7Leu
ENST00000640297.1:n.317+49033T>C
ENST00000640351.1:c.169T>C
ENST00000640426.2:n.145T>C
ENST00000640898.1:n.214T>C
ENST00000640980.1:c.19T>C	ENSP00000491191.1:p.Phe7Leu
ENST00000367519.7:c.433T>C	ENSP00000356489.3:p.Phe145Leu
ENST00000435470.1:c.192T>C
ENST00000450221.5:c.132T>C
ENST00000461700.1:n.137-19T>C
ENST00000496228.1:n.166T>C
ENST00000611340.4:c.19T>C	ENSP00000480268.1:p.Phe7Leu
ENST00000618445.4:c.433T>C	ENSP00000480339.1:p.Phe145Leu
NM_001018041.1:c.433T>C	NP_001018051.1:p.Phe145Leu
NM_005670.3:c.433T>C	NP_005661.1:p.Phe145Leu
XM_006715564.2:c.433T>C	XP_006715627.1:p.Phe145Leu
XM_011536113.1:c.433T>C	XP_011534415.1:p.Phe145Leu
XM_011536114.1:c.433T>C	XP_011534416.1:p.Phe145Leu
XM_011536115.1:c.433T>C	XP_011534417.1:p.Phe145Leu
XM_011536116.1:c.19T>C	XP_011534418.1:p.Phe7Leu
NM_001360057.1:c.433T>C	NP_001346986.1:p.Phe145Leu
NM_001360064.1:c.19T>C	NP_001346993.1:p.Phe7Leu
NM_001360071.1:c.19T>C	NP_001347000.1:p.Phe7Leu
NR_153397.1:n.455T>C
NR_153398.1:n.246T>C
XM_011536113.2:c.433T>C	XP_011534415.1:p.Phe145Leu
XM_024446550.1:c.433T>C	XP_024302318.1:p.Phe145Leu
XM_024446551.1:c.19T>C	XP_024302319.1:p.Phe7Leu
NM_005670.4:c.433T>C MANE Select	NP_005661.1:p.Phe145Leu
NM_001018041.2:c.433T>C	NP_001018051.1:p.Phe145Leu
NM_001360057.2:c.433T>C	NP_001346986.1:p.Phe145Leu
NM_001360064.2:c.19T>C	NP_001346993.1:p.Phe7Leu
NM_001360071.2:c.19T>C	NP_001347000.1:p.Phe7Leu
NM_001368129.2:c.-191T>C	NP_001355058.1:n.-191T>C
NM_001368130.1:c.433T>C	NP_001355059.1:p.Phe145Leu
NM_001368131.1:c.19T>C	NP_001355060.1:p.Phe7Leu
NM_001368132.1:c.-191T>C	NP_001355061.1:n.-191T>C
NR_153398.2:n.248T>C