Canonical Allele Identifier: CA4035082

Gene: EPM2A

Linked Data

• ClinVar Variation Id: 392758
• ClinVar RCV Id: RCV000427841 ; RCV000813908 ; RCV002411416
• dbSNP Id: rs200641543
• ExAC: 6:145948772 C / T
• gnomAD v2: 6-145948772-C-T
• gnomAD v3: 6-145627636-C-T
• gnomAD v4: 6-145627636-C-T
• MyVariant Identifiers: chr6:g.145948772C>T (hg19) ; chr6:g.145627636C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145627636C>T , CM000668.2:g.145627636C>T	GRCh38
NC_000006.11:g.145948772C>T , CM000668.1:g.145948772C>T	GRCh37
NC_000006.10:g.145990465C>T	NCBI36
NG_012832.1:g.113220G>A
NG_012832.2:g.113220G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.776G>A MANE Select	ENSP00000356489.3:p.Gly259Glu
ENST00000435470.2:c.776G>A	ENSP00000405913.2:p.Gly259Glu
ENST00000450221.6:c.340+7609G>A	ENSP00000414900.2:n.340+7609G>A
ENST00000611340.5:c.362G>A	ENSP00000480268.1:p.Gly121Glu
ENST00000638262.1:c.534G>A	ENSP00000492876.1:p.Gly178=
ENST00000638554.1:c.715G>A	ENSP00000492823.1:n.715G>A
ENST00000638597.1:n.233G>A
ENST00000638717.1:c.501+7609G>A
ENST00000638778.1:c.362G>A	ENSP00000491353.1:p.Gly121Glu
ENST00000638783.1:c.362G>A	ENSP00000491338.1:p.Gly121Glu
ENST00000639049.1:c.1003G>A
ENST00000639106.1:n.4688G>A
ENST00000639423.1:c.362G>A	ENSP00000492701.1:p.Gly121Glu
ENST00000639465.1:c.362G>A	ENSP00000491180.1:p.Gly121Glu
ENST00000639648.1:n.357G>A
ENST00000639799.1:n.1317G>A
ENST00000639859.1:n.6100G>A
ENST00000640225.1:c.*310G>A	ENSP00000492179.1:n.*310G>A
ENST00000640351.1:c.512G>A
ENST00000640980.1:c.120G>A	ENSP00000491191.1:p.Gly40=
ENST00000367519.7:c.776G>A	ENSP00000356489.3:p.Gly259Glu
ENST00000435470.1:c.535G>A
ENST00000450221.5:c.417+7609G>A
ENST00000611340.4:c.362G>A	ENSP00000480268.1:p.Gly121Glu
ENST00000618445.4:c.776G>A	ENSP00000480339.1:p.Gly259Glu
NM_001018041.1:c.776G>A	NP_001018051.1:p.Gly259Glu
NM_005670.3:c.776G>A	NP_005661.1:p.Gly259Glu
XM_006715564.2:c.534G>A	XP_006715627.1:p.Gly178=
XM_011536113.1:c.718+7609G>A	XP_011534415.1:n.718+7609G>A
XM_011536114.1:c.718+7609G>A	XP_011534416.1:n.718+7609G>A
XM_011536116.1:c.362G>A	XP_011534418.1:p.Gly121Glu
NM_001360057.1:c.534G>A	NP_001346986.1:p.Gly178=
NM_001360064.1:c.362G>A	NP_001346993.1:p.Gly121Glu
NM_001360071.1:c.362G>A	NP_001347000.1:p.Gly121Glu
NR_153397.1:n.959G>A
NR_153398.1:n.347G>A
XM_011536113.2:c.718+7609G>A	XP_011534415.1:n.718+7609G>A
XM_017011301.1:c.314G>A	XP_016866790.1:p.Gly105Glu
XM_017011302.1:c.314G>A	XP_016866791.1:p.Gly105Glu
XM_024446550.1:c.718+7609G>A	XP_024302318.1:n.718+7609G>A
XM_024446551.1:c.362G>A	XP_024302319.1:p.Gly121Glu
NM_005670.4:c.776G>A MANE Select	NP_005661.1:p.Gly259Glu
NM_001018041.2:c.776G>A	NP_001018051.1:p.Gly259Glu
NM_001360057.2:c.534G>A	NP_001346986.1:p.Gly178=
NM_001360064.2:c.362G>A	NP_001346993.1:p.Gly121Glu
NM_001360071.2:c.362G>A	NP_001347000.1:p.Gly121Glu
NM_001368129.2:c.314G>A	NP_001355058.1:p.Gly105Glu
NM_001368131.1:c.362G>A	NP_001355060.1:p.Gly121Glu
NM_001368132.1:c.314G>A	NP_001355061.1:p.Gly105Glu
NR_153398.2:n.349G>A