Canonical Allele Identifier: CA243361

Gene: EPM2A

Linked Data

• ClinVar Variation Id: 196413
• ClinVar RCV Id: RCV000177234 ; RCV001252481 ; RCV001083180 ; RCV002314628 ; RCV003907592
• dbSNP Id: rs147399860
• ExAC: 6:145956419 G / A
• gnomAD v2: 6-145956419-G-A
• gnomAD v3: 6-145635283-G-A
• gnomAD v4: 6-145635283-G-A
• COSMIC: COSM3736403
• MyVariant Identifiers: chr6:g.145956419G>A (hg19) ; chr6:g.145635283G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145635283G>A , CM000668.2:g.145635283G>A	GRCh38
NC_000006.11:g.145956419G>A , CM000668.1:g.145956419G>A	GRCh37
NC_000006.10:g.145998112G>A	NCBI36
NG_012832.1:g.105573C>T
NG_012832.2:g.105573C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.680C>T MANE Select	ENSP00000356489.3:p.Ala227Val
ENST00000435470.2:c.680C>T	ENSP00000405913.2:p.Ala227Val
ENST00000450221.6:c.302C>T	ENSP00000414900.2:p.Ala101Val
ENST00000611340.5:c.266C>T	ENSP00000480268.1:p.Ala89Val
ENST00000638262.1:c.477-7590C>T	ENSP00000492876.1:n.477-7590C>T
ENST00000638554.1:c.619C>T	ENSP00000492823.1:n.619C>T
ENST00000638717.1:c.463C>T
ENST00000638778.1:c.266C>T	ENSP00000491353.1:p.Ala89Val
ENST00000638783.1:c.266C>T	ENSP00000491338.1:p.Ala89Val
ENST00000639049.1:c.907C>T
ENST00000639423.1:c.266C>T	ENSP00000492701.1:p.Ala89Val
ENST00000639465.1:c.266C>T	ENSP00000491180.1:p.Ala89Val
ENST00000639648.1:n.261C>T
ENST00000639799.1:n.1221C>T
ENST00000639849.1:c.*214C>T	ENSP00000491224.1:n.*214C>T
ENST00000639859.1:n.6004C>T
ENST00000640225.1:c.*214C>T	ENSP00000492179.1:n.*214C>T
ENST00000640351.1:c.416C>T
ENST00000640980.1:c.63-7590C>T	ENSP00000491191.1:n.63-7590C>T
ENST00000367519.7:c.680C>T	ENSP00000356489.3:p.Ala227Val
ENST00000435470.1:c.439C>T
ENST00000450221.5:c.379C>T
ENST00000489412.1:n.299C>T
ENST00000496228.1:n.574C>T
ENST00000611340.4:c.266C>T	ENSP00000480268.1:p.Ala89Val
ENST00000618445.4:c.680C>T	ENSP00000480339.1:p.Ala227Val
NM_001018041.1:c.680C>T	NP_001018051.1:p.Ala227Val
NM_005670.3:c.680C>T	NP_005661.1:p.Ala227Val
XM_006715564.2:c.477-7590C>T	XP_006715627.1:n.477-7590C>T
XM_011536113.1:c.680C>T	XP_011534415.1:p.Ala227Val
XM_011536114.1:c.680C>T	XP_011534416.1:p.Ala227Val
XM_011536116.1:c.266C>T	XP_011534418.1:p.Ala89Val
NM_001360057.1:c.477-7590C>T	NP_001346986.1:n.477-7590C>T
NM_001360064.1:c.266C>T	NP_001346993.1:p.Ala89Val
NM_001360071.1:c.266C>T	NP_001347000.1:p.Ala89Val
NR_153397.1:n.863C>T
NR_153398.1:n.290-7590C>T
XM_011536113.2:c.680C>T	XP_011534415.1:p.Ala227Val
XM_017011301.1:c.218C>T	XP_016866790.1:p.Ala73Val
XM_017011302.1:c.218C>T	XP_016866791.1:p.Ala73Val
XM_024446550.1:c.680C>T	XP_024302318.1:p.Ala227Val
XM_024446551.1:c.266C>T	XP_024302319.1:p.Ala89Val
NM_005670.4:c.680C>T MANE Select	NP_005661.1:p.Ala227Val
NM_001018041.2:c.680C>T	NP_001018051.1:p.Ala227Val
NM_001360057.2:c.477-7590C>T	NP_001346986.1:n.477-7590C>T
NM_001360064.2:c.266C>T	NP_001346993.1:p.Ala89Val
NM_001360071.2:c.266C>T	NP_001347000.1:p.Ala89Val
NM_001368129.2:c.218C>T	NP_001355058.1:p.Ala73Val
NM_001368130.1:c.680C>T	NP_001355059.1:p.Ala227Val
NM_001368131.1:c.266C>T	NP_001355060.1:p.Ala89Val
NM_001368132.1:c.218C>T	NP_001355061.1:p.Ala73Val
NR_153398.2:n.292-7590C>T