Canonical Allele Identifier: CA366190946

Gene: EPM2A

Linked Data

• MyVariant Identifiers: chr6:g.145956422A>C (hg19) ; chr6:g.145635286A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145635286A>C , CM000668.2:g.145635286A>C	GRCh38
NC_000006.11:g.145956422A>C , CM000668.1:g.145956422A>C	GRCh37
NC_000006.10:g.145998115A>C	NCBI36
NG_012832.1:g.105570T>G
NG_012832.2:g.105570T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.677T>G MANE Select	ENSP00000356489.3:p.Leu226Trp
ENST00000435470.2:c.677T>G	ENSP00000405913.2:p.Leu226Trp
ENST00000450221.6:c.299T>G	ENSP00000414900.2:p.Leu100Trp
ENST00000611340.5:c.263T>G	ENSP00000480268.1:p.Leu88Trp
ENST00000638262.1:c.477-7593T>G	ENSP00000492876.1:n.477-7593T>G
ENST00000638554.1:c.616T>G	ENSP00000492823.1:n.616T>G
ENST00000638717.1:c.460T>G
ENST00000638778.1:c.263T>G	ENSP00000491353.1:p.Leu88Trp
ENST00000638783.1:c.263T>G	ENSP00000491338.1:p.Leu88Trp
ENST00000639049.1:c.904T>G
ENST00000639423.1:c.263T>G	ENSP00000492701.1:p.Leu88Trp
ENST00000639465.1:c.263T>G	ENSP00000491180.1:p.Leu88Trp
ENST00000639648.1:n.258T>G
ENST00000639799.1:n.1218T>G
ENST00000639849.1:c.*211T>G	ENSP00000491224.1:n.*211T>G
ENST00000639859.1:n.6001T>G
ENST00000640225.1:c.*211T>G	ENSP00000492179.1:n.*211T>G
ENST00000640351.1:c.413T>G
ENST00000640980.1:c.63-7593T>G	ENSP00000491191.1:n.63-7593T>G
ENST00000367519.7:c.677T>G	ENSP00000356489.3:p.Leu226Trp
ENST00000435470.1:c.436T>G
ENST00000450221.5:c.376T>G
ENST00000489412.1:n.296T>G
ENST00000496228.1:n.571T>G
ENST00000611340.4:c.263T>G	ENSP00000480268.1:p.Leu88Trp
ENST00000618445.4:c.677T>G	ENSP00000480339.1:p.Leu226Trp
NM_001018041.1:c.677T>G	NP_001018051.1:p.Leu226Trp
NM_005670.3:c.677T>G	NP_005661.1:p.Leu226Trp
XM_006715564.2:c.477-7593T>G	XP_006715627.1:n.477-7593T>G
XM_011536113.1:c.677T>G	XP_011534415.1:p.Leu226Trp
XM_011536114.1:c.677T>G	XP_011534416.1:p.Leu226Trp
XM_011536116.1:c.263T>G	XP_011534418.1:p.Leu88Trp
NM_001360057.1:c.477-7593T>G	NP_001346986.1:n.477-7593T>G
NM_001360064.1:c.263T>G	NP_001346993.1:p.Leu88Trp
NM_001360071.1:c.263T>G	NP_001347000.1:p.Leu88Trp
NR_153397.1:n.860T>G
NR_153398.1:n.290-7593T>G
XM_011536113.2:c.677T>G	XP_011534415.1:p.Leu226Trp
XM_017011301.1:c.215T>G	XP_016866790.1:p.Leu72Trp
XM_017011302.1:c.215T>G	XP_016866791.1:p.Leu72Trp
XM_024446550.1:c.677T>G	XP_024302318.1:p.Leu226Trp
XM_024446551.1:c.263T>G	XP_024302319.1:p.Leu88Trp
NM_005670.4:c.677T>G MANE Select	NP_005661.1:p.Leu226Trp
NM_001018041.2:c.677T>G	NP_001018051.1:p.Leu226Trp
NM_001360057.2:c.477-7593T>G	NP_001346986.1:n.477-7593T>G
NM_001360064.2:c.263T>G	NP_001346993.1:p.Leu88Trp
NM_001360071.2:c.263T>G	NP_001347000.1:p.Leu88Trp
NM_001368129.2:c.215T>G	NP_001355058.1:p.Leu72Trp
NM_001368130.1:c.677T>G	NP_001355059.1:p.Leu226Trp
NM_001368131.1:c.263T>G	NP_001355060.1:p.Leu88Trp
NM_001368132.1:c.215T>G	NP_001355061.1:p.Leu72Trp
NR_153398.2:n.292-7593T>G