Canonical Allele Identifier: CA1670239697

Gene: EPM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145635724_145635725delinsAC , CM000668.2:g.145635724_145635725delinsAC	GRCh38
NC_000006.11:g.145956860_145956861delinsAC , CM000668.1:g.145956860_145956861delinsAC	GRCh37
NC_000006.10:g.145998553_145998554delinsAC	NCBI36
NG_012832.1:g.105131_105132delinsGT
NG_012832.2:g.105131_105132delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.477-239_477-238delinsGT MANE Select	ENSP00000356489.3:n.477-239_477-238delinsGT
ENST00000435470.2:c.477-239_477-238delinsGT	ENSP00000405913.2:n.477-239_477-238delinsGT
ENST00000450221.6:c.99-239_99-238delinsGT	ENSP00000414900.2:n.99-239_99-238delinsGT
ENST00000496228.2:n.445-239_445-238delinsGT
ENST00000611340.5:c.63-239_63-238delinsGT	ENSP00000480268.1:n.63-239_63-238delinsGT
ENST00000638262.1:c.477-8032_477-8031delinsGT	ENSP00000492876.1:n.477-8032_477-8031delinsGT
ENST00000638554.1:c.416-239_416-238delinsGT	ENSP00000492823.1:n.416-239_416-238delinsGT
ENST00000638717.1:c.260-239_260-238delinsGT
ENST00000638778.1:c.63-239_63-238delinsGT	ENSP00000491353.1:n.63-239_63-238delinsGT
ENST00000638783.1:c.63-239_63-238delinsGT	ENSP00000491338.1:n.63-239_63-238delinsGT
ENST00000639049.1:c.704-239_704-238delinsGT
ENST00000639423.1:c.63-239_63-238delinsGT	ENSP00000492701.1:n.63-239_63-238delinsGT
ENST00000639465.1:c.63-239_63-238delinsGT	ENSP00000491180.1:n.63-239_63-238delinsGT
ENST00000639648.1:n.58-239_58-238delinsGT
ENST00000639799.1:n.1018-239_1018-238delinsGT
ENST00000639849.1:c.*11-239_*11-238delinsGT	ENSP00000491224.1:n.*11-239_*11-238delinsGT
ENST00000639859.1:n.5562_5563delinsGT
ENST00000640225.1:c.*11-239_*11-238delinsGT	ENSP00000492179.1:n.*11-239_*11-238delinsGT
ENST00000640297.1:n.318-239_318-238delinsGT
ENST00000640351.1:c.213-239_213-238delinsGT
ENST00000640980.1:c.63-8032_63-8031delinsGT	ENSP00000491191.1:n.63-8032_63-8031delinsGT
ENST00000367519.7:c.477-239_477-238delinsGT	ENSP00000356489.3:n.477-239_477-238delinsGT
ENST00000435470.1:c.236-239_236-238delinsGT
ENST00000450221.5:c.176-239_176-238delinsGT
ENST00000489412.1:n.96-239_96-238delinsGT
ENST00000496228.1:n.371-239_371-238delinsGT
ENST00000611340.4:c.63-239_63-238delinsGT	ENSP00000480268.1:n.63-239_63-238delinsGT
ENST00000618445.4:c.477-239_477-238delinsGT	ENSP00000480339.1:n.477-239_477-238delinsGT
NM_001018041.1:c.477-239_477-238delinsGT	NP_001018051.1:n.477-239_477-238delinsGT
NM_005670.3:c.477-239_477-238delinsGT	NP_005661.1:n.477-239_477-238delinsGT
XM_006715564.2:c.477-8032_477-8031delinsGT	XP_006715627.1:n.477-8032_477-8031delinsGT
XM_011536113.1:c.477-239_477-238delinsGT	XP_011534415.1:n.477-239_477-238delinsGT
XM_011536114.1:c.477-239_477-238delinsGT	XP_011534416.1:n.477-239_477-238delinsGT
XM_011536116.1:c.63-239_63-238delinsGT	XP_011534418.1:n.63-239_63-238delinsGT
NM_001360057.1:c.477-8032_477-8031delinsGT	NP_001346986.1:n.477-8032_477-8031delinsGT
NM_001360064.1:c.63-239_63-238delinsGT	NP_001346993.1:n.63-239_63-238delinsGT
NM_001360071.1:c.63-239_63-238delinsGT	NP_001347000.1:n.63-239_63-238delinsGT
NR_153397.1:n.660-239_660-238delinsGT
NR_153398.1:n.290-8032_290-8031delinsGT
XM_011536113.2:c.477-239_477-238delinsGT	XP_011534415.1:n.477-239_477-238delinsGT
XM_017011301.1:c.15-239_15-238delinsGT	XP_016866790.1:n.15-239_15-238delinsGT
XM_017011302.1:c.15-239_15-238delinsGT	XP_016866791.1:n.15-239_15-238delinsGT
XM_024446550.1:c.477-239_477-238delinsGT	XP_024302318.1:n.477-239_477-238delinsGT
XM_024446551.1:c.63-239_63-238delinsGT	XP_024302319.1:n.63-239_63-238delinsGT
NM_005670.4:c.477-239_477-238delinsGT MANE Select	NP_005661.1:n.477-239_477-238delinsGT
NM_001018041.2:c.477-239_477-238delinsGT	NP_001018051.1:n.477-239_477-238delinsGT
NM_001360057.2:c.477-8032_477-8031delinsGT	NP_001346986.1:n.477-8032_477-8031delinsGT
NM_001360064.2:c.63-239_63-238delinsGT	NP_001346993.1:n.63-239_63-238delinsGT
NM_001360071.2:c.63-239_63-238delinsGT	NP_001347000.1:n.63-239_63-238delinsGT
NM_001368129.2:c.15-239_15-238delinsGT	NP_001355058.1:n.15-239_15-238delinsGT
NM_001368130.1:c.477-239_477-238delinsGT	NP_001355059.1:n.477-239_477-238delinsGT
NM_001368131.1:c.63-239_63-238delinsGT	NP_001355060.1:n.63-239_63-238delinsGT
NM_001368132.1:c.15-239_15-238delinsGT	NP_001355061.1:n.15-239_15-238delinsGT
NR_153398.2:n.292-8032_292-8031delinsGT