Canonical Allele Identifier: CA2680641393

Gene: EPM2A

Linked Data

• gnomAD v4: 6-145635680-A-AGC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145635680_145635681insGC , CM000668.2:g.145635680_145635681insGC	GRCh38
NC_000006.11:g.145956816_145956817insGC , CM000668.1:g.145956816_145956817insGC	GRCh37
NC_000006.10:g.145998509_145998510insGC	NCBI36
NG_012832.1:g.105175_105176insGC
NG_012832.2:g.105175_105176insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.477-195_477-194insGC MANE Select	ENSP00000356489.3:n.477-195_477-194insGC
ENST00000435470.2:c.477-195_477-194insGC	ENSP00000405913.2:n.477-195_477-194insGC
ENST00000450221.6:c.99-195_99-194insGC	ENSP00000414900.2:n.99-195_99-194insGC
ENST00000496228.2:n.445-195_445-194insGC
ENST00000611340.5:c.63-195_63-194insGC	ENSP00000480268.1:n.63-195_63-194insGC
ENST00000638262.1:c.477-7988_477-7987insGC	ENSP00000492876.1:n.477-7988_477-7987insGC
ENST00000638554.1:c.416-195_416-194insGC	ENSP00000492823.1:n.416-195_416-194insGC
ENST00000638717.1:c.260-195_260-194insGC
ENST00000638778.1:c.63-195_63-194insGC	ENSP00000491353.1:n.63-195_63-194insGC
ENST00000638783.1:c.63-195_63-194insGC	ENSP00000491338.1:n.63-195_63-194insGC
ENST00000639049.1:c.704-195_704-194insGC
ENST00000639423.1:c.63-195_63-194insGC	ENSP00000492701.1:n.63-195_63-194insGC
ENST00000639465.1:c.63-195_63-194insGC	ENSP00000491180.1:n.63-195_63-194insGC
ENST00000639648.1:n.58-195_58-194insGC
ENST00000639799.1:n.1018-195_1018-194insGC
ENST00000639849.1:c.*11-195_*11-194insGC	ENSP00000491224.1:n.*11-195_*11-194insGC
ENST00000639859.1:n.5606_5607insGC
ENST00000640225.1:c.*11-195_*11-194insGC	ENSP00000492179.1:n.*11-195_*11-194insGC
ENST00000640297.1:n.318-195_318-194insGC
ENST00000640351.1:c.213-195_213-194insGC
ENST00000640980.1:c.63-7988_63-7987insGC	ENSP00000491191.1:n.63-7988_63-7987insGC
ENST00000367519.7:c.477-195_477-194insGC	ENSP00000356489.3:n.477-195_477-194insGC
ENST00000435470.1:c.236-195_236-194insGC
ENST00000450221.5:c.176-195_176-194insGC
ENST00000489412.1:n.96-195_96-194insGC
ENST00000496228.1:n.371-195_371-194insGC
ENST00000611340.4:c.63-195_63-194insGC	ENSP00000480268.1:n.63-195_63-194insGC
ENST00000618445.4:c.477-195_477-194insGC	ENSP00000480339.1:n.477-195_477-194insGC
NM_001018041.1:c.477-195_477-194insGC	NP_001018051.1:n.477-195_477-194insGC
NM_005670.3:c.477-195_477-194insGC	NP_005661.1:n.477-195_477-194insGC
XM_006715564.2:c.477-7988_477-7987insGC	XP_006715627.1:n.477-7988_477-7987insGC
XM_011536113.1:c.477-195_477-194insGC	XP_011534415.1:n.477-195_477-194insGC
XM_011536114.1:c.477-195_477-194insGC	XP_011534416.1:n.477-195_477-194insGC
XM_011536116.1:c.63-195_63-194insGC	XP_011534418.1:n.63-195_63-194insGC
NM_001360057.1:c.477-7988_477-7987insGC	NP_001346986.1:n.477-7988_477-7987insGC
NM_001360064.1:c.63-195_63-194insGC	NP_001346993.1:n.63-195_63-194insGC
NM_001360071.1:c.63-195_63-194insGC	NP_001347000.1:n.63-195_63-194insGC
NR_153397.1:n.660-195_660-194insGC
NR_153398.1:n.290-7988_290-7987insGC
XM_011536113.2:c.477-195_477-194insGC	XP_011534415.1:n.477-195_477-194insGC
XM_017011301.1:c.15-195_15-194insGC	XP_016866790.1:n.15-195_15-194insGC
XM_017011302.1:c.15-195_15-194insGC	XP_016866791.1:n.15-195_15-194insGC
XM_024446550.1:c.477-195_477-194insGC	XP_024302318.1:n.477-195_477-194insGC
XM_024446551.1:c.63-195_63-194insGC	XP_024302319.1:n.63-195_63-194insGC
NM_005670.4:c.477-195_477-194insGC MANE Select	NP_005661.1:n.477-195_477-194insGC
NM_001018041.2:c.477-195_477-194insGC	NP_001018051.1:n.477-195_477-194insGC
NM_001360057.2:c.477-7988_477-7987insGC	NP_001346986.1:n.477-7988_477-7987insGC
NM_001360064.2:c.63-195_63-194insGC	NP_001346993.1:n.63-195_63-194insGC
NM_001360071.2:c.63-195_63-194insGC	NP_001347000.1:n.63-195_63-194insGC
NM_001368129.2:c.15-195_15-194insGC	NP_001355058.1:n.15-195_15-194insGC
NM_001368130.1:c.477-195_477-194insGC	NP_001355059.1:n.477-195_477-194insGC
NM_001368131.1:c.63-195_63-194insGC	NP_001355060.1:n.63-195_63-194insGC
NM_001368132.1:c.15-195_15-194insGC	NP_001355061.1:n.15-195_15-194insGC
NR_153398.2:n.292-7988_292-7987insGC