Canonical Allele Identifier: CA4035135

Gene: EPM2A

Linked Data

• ClinVar Variation Id: 1147047
• ClinVar RCV Id: RCV001486449
• dbSNP Id: rs748995485
• ExAC: 6:145956496 A / G
• MyVariant Identifiers: chr6:g.145956496A>G (hg19) ; chr6:g.145635360A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145635360A>G , CM000668.2:g.145635360A>G	GRCh38
NC_000006.11:g.145956496A>G , CM000668.1:g.145956496A>G	GRCh37
NC_000006.10:g.145998189A>G	NCBI36
NG_012832.1:g.105496T>C
NG_012832.2:g.105496T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.603T>C MANE Select	ENSP00000356489.3:p.Asn201=
ENST00000435470.2:c.603T>C	ENSP00000405913.2:p.Asn201=
ENST00000450221.6:c.225T>C	ENSP00000414900.2:p.Asn75=
ENST00000611340.5:c.189T>C	ENSP00000480268.1:p.Asn63=
ENST00000638262.1:c.477-7667T>C	ENSP00000492876.1:n.477-7667T>C
ENST00000638554.1:c.542T>C	ENSP00000492823.1:n.542T>C
ENST00000638717.1:c.386T>C
ENST00000638778.1:c.189T>C	ENSP00000491353.1:p.Asn63=
ENST00000638783.1:c.189T>C	ENSP00000491338.1:p.Asn63=
ENST00000639049.1:c.830T>C
ENST00000639423.1:c.189T>C	ENSP00000492701.1:p.Asn63=
ENST00000639465.1:c.189T>C	ENSP00000491180.1:p.Asn63=
ENST00000639648.1:n.184T>C
ENST00000639799.1:n.1144T>C
ENST00000639849.1:c.*137T>C	ENSP00000491224.1:n.*137T>C
ENST00000639859.1:n.5927T>C
ENST00000640225.1:c.*137T>C	ENSP00000492179.1:n.*137T>C
ENST00000640351.1:c.339T>C
ENST00000640980.1:c.63-7667T>C	ENSP00000491191.1:n.63-7667T>C
ENST00000367519.7:c.603T>C	ENSP00000356489.3:p.Asn201=
ENST00000435470.1:c.362T>C
ENST00000450221.5:c.302T>C
ENST00000489412.1:n.222T>C
ENST00000496228.1:n.497T>C
ENST00000611340.4:c.189T>C	ENSP00000480268.1:p.Asn63=
ENST00000618445.4:c.603T>C	ENSP00000480339.1:p.Asn201=
NM_001018041.1:c.603T>C	NP_001018051.1:p.Asn201=
NM_005670.3:c.603T>C	NP_005661.1:p.Asn201=
XM_006715564.2:c.477-7667T>C	XP_006715627.1:n.477-7667T>C
XM_011536113.1:c.603T>C	XP_011534415.1:p.Asn201=
XM_011536114.1:c.603T>C	XP_011534416.1:p.Asn201=
XM_011536116.1:c.189T>C	XP_011534418.1:p.Asn63=
NM_001360057.1:c.477-7667T>C	NP_001346986.1:n.477-7667T>C
NM_001360064.1:c.189T>C	NP_001346993.1:p.Asn63=
NM_001360071.1:c.189T>C	NP_001347000.1:p.Asn63=
NR_153397.1:n.786T>C
NR_153398.1:n.290-7667T>C
XM_011536113.2:c.603T>C	XP_011534415.1:p.Asn201=
XM_017011301.1:c.141T>C	XP_016866790.1:p.Asn47=
XM_017011302.1:c.141T>C	XP_016866791.1:p.Asn47=
XM_024446550.1:c.603T>C	XP_024302318.1:p.Asn201=
XM_024446551.1:c.189T>C	XP_024302319.1:p.Asn63=
NM_005670.4:c.603T>C MANE Select	NP_005661.1:p.Asn201=
NM_001018041.2:c.603T>C	NP_001018051.1:p.Asn201=
NM_001360057.2:c.477-7667T>C	NP_001346986.1:n.477-7667T>C
NM_001360064.2:c.189T>C	NP_001346993.1:p.Asn63=
NM_001360071.2:c.189T>C	NP_001347000.1:p.Asn63=
NM_001368129.2:c.141T>C	NP_001355058.1:p.Asn47=
NM_001368130.1:c.603T>C	NP_001355059.1:p.Asn201=
NM_001368131.1:c.189T>C	NP_001355060.1:p.Asn63=
NM_001368132.1:c.141T>C	NP_001355061.1:p.Asn47=
NR_153398.2:n.292-7667T>C