Canonical Allele Identifier: CA16618250

Gene: EPM2A

Linked Data

• ClinVar Variation Id: 423471
• ClinVar RCV Id: RCV000483237 ; RCV003746527
• dbSNP Id: rs1554263320
• MyVariant Identifiers: chr6:g.146007265_146007268dupAATG (hg19) ; chr6:g.146007264_146007265insAATG (hg19) ; chr6:g.145686129_145686132dupAATG (hg38) ; chr6:g.145686128_145686129insAATG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145686129_145686132dup , CM000668.2:g.145686129_145686132dup	GRCh38
NC_000006.11:g.146007265_146007268dup , CM000668.1:g.146007265_146007268dup	GRCh37
NC_000006.10:g.146048958_146048961dup	NCBI36
NG_012832.1:g.54724_54727dup
NG_012832.2:g.54724_54727dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.466_469dup MANE Select	ENSP00000356489.3:p.Tyr157SerfsTer13
ENST00000435470.2:c.466_469dup	ENSP00000405913.2:p.Tyr157SerfsTer13
ENST00000450221.6:c.88_91dup	ENSP00000414900.2:p.Tyr31SerfsTer13
ENST00000496228.2:n.273_276dup
ENST00000611340.5:c.52_55dup	ENSP00000480268.1:p.Tyr19SerfsTer13
ENST00000638262.1:c.466_469dup	ENSP00000492876.1:p.Tyr157SerfsTer?
ENST00000638554.1:c.244_247dup	ENSP00000492823.1:p.Tyr83SerfsTer11
ENST00000638717.1:c.249_252dup
ENST00000638778.1:c.52_55dup	ENSP00000491353.1:p.Tyr19SerfsTer13
ENST00000638783.1:c.52_55dup	ENSP00000491338.1:p.Tyr19SerfsTer13
ENST00000639049.1:c.693_696dup
ENST00000639423.1:c.52_55dup	ENSP00000492701.1:p.Tyr19SerfsTer13
ENST00000639465.1:c.52_55dup	ENSP00000491180.1:p.Tyr19SerfsTer13
ENST00000639799.1:n.1007_1010dup
ENST00000639849.1:c.52_55dup	ENSP00000491224.1:p.Tyr19SerfsTer11
ENST00000640225.1:c.52_55dup	ENSP00000492179.1:p.Tyr19SerfsTer11
ENST00000640297.1:n.317+49066_317+49069dup
ENST00000640351.1:c.202_205dup
ENST00000640426.2:n.178_181dup
ENST00000640898.1:n.247_250dup
ENST00000640980.1:c.52_55dup	ENSP00000491191.1:p.Tyr19SerfsTer?
ENST00000367519.7:c.466_469dup	ENSP00000356489.3:p.Tyr157SerfsTer13
ENST00000435470.1:c.225_228dup
ENST00000450221.5:c.165_168dup
ENST00000461700.1:n.151_154dup
ENST00000496228.1:n.199_202dup
ENST00000611340.4:c.52_55dup	ENSP00000480268.1:p.Tyr19SerfsTer13
ENST00000618445.4:c.466_469dup	ENSP00000480339.1:p.Tyr157SerfsTer13
NM_001018041.1:c.466_469dup	NP_001018051.1:p.Tyr157SerfsTer13
NM_005670.3:c.466_469dup	NP_005661.1:p.Tyr157SerfsTer13
XM_006715564.2:c.466_469dup	XP_006715627.1:p.Tyr157SerfsTer?
XM_011536113.1:c.466_469dup	XP_011534415.1:p.Tyr157SerfsTer13
XM_011536114.1:c.466_469dup	XP_011534416.1:p.Tyr157SerfsTer13
XM_011536115.1:c.466_469dup	XP_011534417.1:p.Tyr157SerfsTer11
XM_011536116.1:c.52_55dup	XP_011534418.1:p.Tyr19SerfsTer13
NM_001360057.1:c.466_469dup	NP_001346986.1:p.Tyr157SerfsTer?
NM_001360064.1:c.52_55dup	NP_001346993.1:p.Tyr19SerfsTer13
NM_001360071.1:c.52_55dup	NP_001347000.1:p.Tyr19SerfsTer13
NR_153397.1:n.488_491dup
NR_153398.1:n.279_282dup
XM_011536113.2:c.466_469dup	XP_011534415.1:p.Tyr157SerfsTer13
XM_024446550.1:c.466_469dup	XP_024302318.1:p.Tyr157SerfsTer13
XM_024446551.1:c.52_55dup	XP_024302319.1:p.Tyr19SerfsTer13
NM_005670.4:c.466_469dup MANE Select	NP_005661.1:p.Tyr157SerfsTer13
NM_001018041.2:c.466_469dup	NP_001018051.1:p.Tyr157SerfsTer13
NM_001360057.2:c.466_469dup	NP_001346986.1:p.Tyr157SerfsTer?
NM_001360064.2:c.52_55dup	NP_001346993.1:p.Tyr19SerfsTer13
NM_001360071.2:c.52_55dup	NP_001347000.1:p.Tyr19SerfsTer13
NM_001368129.2:c.-158_-155dup	NP_001355058.1:n.-158_-155dup
NM_001368130.1:c.466_469dup	NP_001355059.1:p.Tyr157SerfsTer13
NM_001368131.1:c.52_55dup	NP_001355060.1:p.Tyr19SerfsTer13
NM_001368132.1:c.-158_-155dup	NP_001355061.1:n.-158_-155dup
NR_153398.2:n.281_284dup