Canonical Allele Identifier: CA16042530

Gene: EPM2A

Linked Data

• ClinVar Variation Id: 373591
• ClinVar RCV Id: RCV000413271
• dbSNP Id: rs962446151
• MyVariant Identifiers: chr6:g.146007299G>T (hg19) ; chr6:g.145686163G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145686163G>T , CM000668.2:g.145686163G>T	GRCh38
NC_000006.11:g.146007299G>T , CM000668.1:g.146007299G>T	GRCh37
NC_000006.10:g.146048992G>T	NCBI36
NG_012832.1:g.54693C>A
NG_012832.2:g.54693C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.435C>A MANE Select	ENSP00000356489.3:p.Phe145Leu
ENST00000435470.2:c.435C>A	ENSP00000405913.2:p.Phe145Leu
ENST00000450221.6:c.57C>A	ENSP00000414900.2:p.Phe19Leu
ENST00000496228.2:n.242C>A
ENST00000611340.5:c.21C>A	ENSP00000480268.1:p.Phe7Leu
ENST00000638262.1:c.435C>A	ENSP00000492876.1:p.Phe145Leu
ENST00000638554.1:c.213C>A	ENSP00000492823.1:p.Phe71Leu
ENST00000638717.1:c.218C>A
ENST00000638778.1:c.21C>A	ENSP00000491353.1:p.Phe7Leu
ENST00000638783.1:c.21C>A	ENSP00000491338.1:p.Phe7Leu
ENST00000639049.1:c.662C>A
ENST00000639423.1:c.21C>A	ENSP00000492701.1:p.Phe7Leu
ENST00000639465.1:c.21C>A	ENSP00000491180.1:p.Phe7Leu
ENST00000639799.1:n.976C>A
ENST00000639849.1:c.21C>A	ENSP00000491224.1:p.Phe7Leu
ENST00000640225.1:c.21C>A	ENSP00000492179.1:p.Phe7Leu
ENST00000640297.1:n.317+49035C>A
ENST00000640351.1:c.171C>A
ENST00000640426.2:n.147C>A
ENST00000640898.1:n.216C>A
ENST00000640980.1:c.21C>A	ENSP00000491191.1:p.Phe7Leu
ENST00000367519.7:c.435C>A	ENSP00000356489.3:p.Phe145Leu
ENST00000435470.1:c.194C>A
ENST00000450221.5:c.134C>A
ENST00000461700.1:n.137-17C>A
ENST00000496228.1:n.168C>A
ENST00000611340.4:c.21C>A	ENSP00000480268.1:p.Phe7Leu
ENST00000618445.4:c.435C>A	ENSP00000480339.1:p.Phe145Leu
NM_001018041.1:c.435C>A	NP_001018051.1:p.Phe145Leu
NM_005670.3:c.435C>A	NP_005661.1:p.Phe145Leu
XM_006715564.2:c.435C>A	XP_006715627.1:p.Phe145Leu
XM_011536113.1:c.435C>A	XP_011534415.1:p.Phe145Leu
XM_011536114.1:c.435C>A	XP_011534416.1:p.Phe145Leu
XM_011536115.1:c.435C>A	XP_011534417.1:p.Phe145Leu
XM_011536116.1:c.21C>A	XP_011534418.1:p.Phe7Leu
NM_001360057.1:c.435C>A	NP_001346986.1:p.Phe145Leu
NM_001360064.1:c.21C>A	NP_001346993.1:p.Phe7Leu
NM_001360071.1:c.21C>A	NP_001347000.1:p.Phe7Leu
NR_153397.1:n.457C>A
NR_153398.1:n.248C>A
XM_011536113.2:c.435C>A	XP_011534415.1:p.Phe145Leu
XM_024446550.1:c.435C>A	XP_024302318.1:p.Phe145Leu
XM_024446551.1:c.21C>A	XP_024302319.1:p.Phe7Leu
NM_005670.4:c.435C>A MANE Select	NP_005661.1:p.Phe145Leu
NM_001018041.2:c.435C>A	NP_001018051.1:p.Phe145Leu
NM_001360057.2:c.435C>A	NP_001346986.1:p.Phe145Leu
NM_001360064.2:c.21C>A	NP_001346993.1:p.Phe7Leu
NM_001360071.2:c.21C>A	NP_001347000.1:p.Phe7Leu
NM_001368129.2:c.-189C>A	NP_001355058.1:n.-189C>A
NM_001368130.1:c.435C>A	NP_001355059.1:p.Phe145Leu
NM_001368131.1:c.21C>A	NP_001355060.1:p.Phe7Leu
NM_001368132.1:c.-189C>A	NP_001355061.1:n.-189C>A
NR_153398.2:n.250C>A