Canonical Allele Identifier: CA4035234

Gene: EPM2A EPM2A-DT

Linked Data

• dbSNP Id: rs780094977
• ExAC: 6:146056412 CG / C
• gnomAD v2: 6-146056412-CG-C
• gnomAD v4: 6-145735276-CG-C
• MyVariant Identifiers: chr6:g.146056413del (hg19) ; chr6:g.145735277del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145735277del , CM000668.2:g.145735277del	GRCh38
NC_000006.11:g.146056413del , CM000668.1:g.146056413del	GRCh37
NC_000006.10:g.146098106del	NCBI36
NG_012832.1:g.5579del
NG_012832.2:g.5579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.222del (EPM2A) MANE Select	ENSP00000356489.3:p.Asp74GlufsTer16
ENST00000435470.2:c.222del (EPM2A)	ENSP00000405913.2:p.Asp74GlufsTer16
ENST00000611340.5:c.-114+719del (EPM2A)	ENSP00000480268.1:n.-114+719del
ENST00000638262.1:c.222del (EPM2A)	ENSP00000492876.1:p.Asp74GlufsTer16
ENST00000638717.1:c.5del (EPM2A)
ENST00000639049.1:c.194del (EPM2A)
ENST00000639423.1:c.-114+631del (EPM2A)	ENSP00000492701.1:n.-114+631del
ENST00000639649.1:n.150del (EPM2A)
ENST00000640297.1:n.238del (EPM2A)
ENST00000640351.1:c.5del (EPM2A)
ENST00000640898.1:n.82+631del (EPM2A)
ENST00000640980.1:c.-114+631del (EPM2A)	ENSP00000491191.1:n.-114+631del
ENST00000367519.7:c.222del (EPM2A)	ENSP00000356489.3:p.Asp74GlufsTer16
ENST00000618445.4:c.222del (EPM2A)	ENSP00000480339.1:p.Asp74GlufsTer16
NM_001018041.1:c.222del (EPM2A)	NP_001018051.1:p.Asp74GlufsTer16
NM_005670.3:c.222del (EPM2A)	NP_005661.1:p.Asp74GlufsTer16
NR_038246.1:n.52+357del (EPM2A-DT)
XM_006715564.2:c.222del (EPM2A)	XP_006715627.1:p.Asp74GlufsTer16
XM_011536113.1:c.222del (EPM2A)	XP_011534415.1:p.Asp74GlufsTer16
XM_011536114.1:c.222del (EPM2A)	XP_011534416.1:p.Asp74GlufsTer16
XM_011536115.1:c.222del (EPM2A)	XP_011534417.1:p.Asp74GlufsTer16
NM_001360057.1:c.222del (EPM2A)	NP_001346986.1:p.Asp74GlufsTer16
NM_001360064.1:c.-114+631del (EPM2A)	NP_001346993.1:n.-114+631del
NM_001360071.1:c.-448del (EPM2A)	NP_001347000.1:n.-448del
NR_153397.1:n.244del (EPM2A)
NR_153398.1:n.114+631del (EPM2A)
XM_011536113.2:c.222del (EPM2A)	XP_011534415.1:p.Asp74GlufsTer16
XM_024446550.1:c.222del (EPM2A)	XP_024302318.1:p.Asp74GlufsTer16
NM_005670.4:c.222del (EPM2A) MANE Select	NP_005661.1:p.Asp74GlufsTer16
NM_001018041.2:c.222del (EPM2A)	NP_001018051.1:p.Asp74GlufsTer16
NM_001360057.2:c.222del (EPM2A)	NP_001346986.1:p.Asp74GlufsTer16
NM_001360064.2:c.-114+631del (EPM2A)	NP_001346993.1:n.-114+631del
NM_001360071.2:c.-448del (EPM2A)	NP_001347000.1:n.-448del
NM_001368129.2:c.-402del (EPM2A)	NP_001355058.1:n.-402del
NM_001368130.1:c.222del (EPM2A)	NP_001355059.1:p.Asp74GlufsTer16
NM_001368131.1:c.-146del (EPM2A)	NP_001355060.1:n.-146del
NR_153398.2:n.116+631del (EPM2A)