Canonical Allele Identifier: CA366190434

Gene: EPM2A

Linked Data

• ClinVar Variation Id: 462933
• ClinVar RCV Id: RCV000556253 ; RCV001563435
• dbSNP Id: rs1387516050
• gnomAD v4: 6-145627667-C-A
• COSMIC: COSM740727 ; COSM4861906
• MyVariant Identifiers: chr6:g.145948803C>A (hg19) ; chr6:g.145627667C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145627667C>A , CM000668.2:g.145627667C>A	GRCh38
NC_000006.11:g.145948803C>A , CM000668.1:g.145948803C>A	GRCh37
NC_000006.10:g.145990496C>A	NCBI36
NG_012832.1:g.113189G>T
NG_012832.2:g.113189G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.745G>T MANE Select	ENSP00000356489.3:p.Val249Leu
ENST00000435470.2:c.745G>T	ENSP00000405913.2:p.Val249Leu
ENST00000450221.6:c.340+7578G>T	ENSP00000414900.2:n.340+7578G>T
ENST00000611340.5:c.331G>T	ENSP00000480268.1:p.Val111Leu
ENST00000638262.1:c.503G>T	ENSP00000492876.1:p.Gly168Val
ENST00000638554.1:c.684G>T	ENSP00000492823.1:n.684G>T
ENST00000638597.1:n.202G>T
ENST00000638717.1:c.501+7578G>T
ENST00000638778.1:c.331G>T	ENSP00000491353.1:p.Val111Leu
ENST00000638783.1:c.331G>T	ENSP00000491338.1:p.Val111Leu
ENST00000639049.1:c.972G>T
ENST00000639106.1:n.4657G>T
ENST00000639423.1:c.331G>T	ENSP00000492701.1:p.Val111Leu
ENST00000639465.1:c.331G>T	ENSP00000491180.1:p.Val111Leu
ENST00000639648.1:n.326G>T
ENST00000639799.1:n.1286G>T
ENST00000639859.1:n.6069G>T
ENST00000640225.1:c.*279G>T	ENSP00000492179.1:n.*279G>T
ENST00000640351.1:c.481G>T
ENST00000640980.1:c.89G>T	ENSP00000491191.1:p.Gly30Val
ENST00000367519.7:c.745G>T	ENSP00000356489.3:p.Val249Leu
ENST00000435470.1:c.504G>T
ENST00000450221.5:c.417+7578G>T
ENST00000611340.4:c.331G>T	ENSP00000480268.1:p.Val111Leu
ENST00000618445.4:c.745G>T	ENSP00000480339.1:p.Val249Leu
NM_001018041.1:c.745G>T	NP_001018051.1:p.Val249Leu
NM_005670.3:c.745G>T	NP_005661.1:p.Val249Leu
XM_006715564.2:c.503G>T	XP_006715627.1:p.Gly168Val
XM_011536113.1:c.718+7578G>T	XP_011534415.1:n.718+7578G>T
XM_011536114.1:c.718+7578G>T	XP_011534416.1:n.718+7578G>T
XM_011536116.1:c.331G>T	XP_011534418.1:p.Val111Leu
NM_001360057.1:c.503G>T	NP_001346986.1:p.Gly168Val
NM_001360064.1:c.331G>T	NP_001346993.1:p.Val111Leu
NM_001360071.1:c.331G>T	NP_001347000.1:p.Val111Leu
NR_153397.1:n.928G>T
NR_153398.1:n.316G>T
XM_011536113.2:c.718+7578G>T	XP_011534415.1:n.718+7578G>T
XM_017011301.1:c.283G>T	XP_016866790.1:p.Val95Leu
XM_017011302.1:c.283G>T	XP_016866791.1:p.Val95Leu
XM_024446550.1:c.718+7578G>T	XP_024302318.1:n.718+7578G>T
XM_024446551.1:c.331G>T	XP_024302319.1:p.Val111Leu
NM_005670.4:c.745G>T MANE Select	NP_005661.1:p.Val249Leu
NM_001018041.2:c.745G>T	NP_001018051.1:p.Val249Leu
NM_001360057.2:c.503G>T	NP_001346986.1:p.Gly168Val
NM_001360064.2:c.331G>T	NP_001346993.1:p.Val111Leu
NM_001360071.2:c.331G>T	NP_001347000.1:p.Val111Leu
NM_001368129.2:c.283G>T	NP_001355058.1:p.Val95Leu
NM_001368131.1:c.331G>T	NP_001355060.1:p.Val111Leu
NM_001368132.1:c.283G>T	NP_001355061.1:p.Val95Leu
NR_153398.2:n.318G>T