Canonical Allele Identifier: CA366191519

Gene: EPM2A

Linked Data

• dbSNP Id: rs2128562745
• gnomAD v3: 6-145635446-C-T
• gnomAD v4: 6-145635446-C-T
• MyVariant Identifiers: chr6:g.145956582C>T (hg19) ; chr6:g.145635446C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145635446C>T , CM000668.2:g.145635446C>T	GRCh38
NC_000006.11:g.145956582C>T , CM000668.1:g.145956582C>T	GRCh37
NC_000006.10:g.145998275C>T	NCBI36
NG_012832.1:g.105410G>A
NG_012832.2:g.105410G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.517G>A MANE Select	ENSP00000356489.3:p.Val173Met
ENST00000435470.2:c.517G>A	ENSP00000405913.2:p.Val173Met
ENST00000450221.6:c.139G>A	ENSP00000414900.2:p.Val47Met
ENST00000496228.2:n.485G>A
ENST00000611340.5:c.103G>A	ENSP00000480268.1:p.Val35Met
ENST00000638262.1:c.477-7753G>A	ENSP00000492876.1:n.477-7753G>A
ENST00000638554.1:c.456G>A	ENSP00000492823.1:n.456G>A
ENST00000638717.1:c.300G>A
ENST00000638778.1:c.103G>A	ENSP00000491353.1:p.Val35Met
ENST00000638783.1:c.103G>A	ENSP00000491338.1:p.Val35Met
ENST00000639049.1:c.744G>A
ENST00000639423.1:c.103G>A	ENSP00000492701.1:p.Val35Met
ENST00000639465.1:c.103G>A	ENSP00000491180.1:p.Val35Met
ENST00000639648.1:n.98G>A
ENST00000639799.1:n.1058G>A
ENST00000639849.1:c.*51G>A	ENSP00000491224.1:n.*51G>A
ENST00000639859.1:n.5841G>A
ENST00000640225.1:c.*51G>A	ENSP00000492179.1:n.*51G>A
ENST00000640297.1:n.358G>A
ENST00000640351.1:c.253G>A
ENST00000640980.1:c.63-7753G>A	ENSP00000491191.1:n.63-7753G>A
ENST00000367519.7:c.517G>A	ENSP00000356489.3:p.Val173Met
ENST00000435470.1:c.276G>A
ENST00000450221.5:c.216G>A
ENST00000489412.1:n.136G>A
ENST00000496228.1:n.411G>A
ENST00000611340.4:c.103G>A	ENSP00000480268.1:p.Val35Met
ENST00000618445.4:c.517G>A	ENSP00000480339.1:p.Val173Met
NM_001018041.1:c.517G>A	NP_001018051.1:p.Val173Met
NM_005670.3:c.517G>A	NP_005661.1:p.Val173Met
XM_006715564.2:c.477-7753G>A	XP_006715627.1:n.477-7753G>A
XM_011536113.1:c.517G>A	XP_011534415.1:p.Val173Met
XM_011536114.1:c.517G>A	XP_011534416.1:p.Val173Met
XM_011536116.1:c.103G>A	XP_011534418.1:p.Val35Met
NM_001360057.1:c.477-7753G>A	NP_001346986.1:n.477-7753G>A
NM_001360064.1:c.103G>A	NP_001346993.1:p.Val35Met
NM_001360071.1:c.103G>A	NP_001347000.1:p.Val35Met
NR_153397.1:n.700G>A
NR_153398.1:n.290-7753G>A
XM_011536113.2:c.517G>A	XP_011534415.1:p.Val173Met
XM_017011301.1:c.55G>A	XP_016866790.1:p.Val19Met
XM_017011302.1:c.55G>A	XP_016866791.1:p.Val19Met
XM_024446550.1:c.517G>A	XP_024302318.1:p.Val173Met
XM_024446551.1:c.103G>A	XP_024302319.1:p.Val35Met
NM_005670.4:c.517G>A MANE Select	NP_005661.1:p.Val173Met
NM_001018041.2:c.517G>A	NP_001018051.1:p.Val173Met
NM_001360057.2:c.477-7753G>A	NP_001346986.1:n.477-7753G>A
NM_001360064.2:c.103G>A	NP_001346993.1:p.Val35Met
NM_001360071.2:c.103G>A	NP_001347000.1:p.Val35Met
NM_001368129.2:c.55G>A	NP_001355058.1:p.Val19Met
NM_001368130.1:c.517G>A	NP_001355059.1:p.Val173Met
NM_001368131.1:c.103G>A	NP_001355060.1:p.Val35Met
NM_001368132.1:c.55G>A	NP_001355061.1:p.Val19Met
NR_153398.2:n.292-7753G>A