Canonical Allele Identifier: CA4035124

Gene: EPM2A

Linked Data

• ClinVar Variation Id: 416699
• ClinVar RCV Id: RCV000461850 ; RCV001704580 ; RCV002318566
• dbSNP Id: rs61758156
• ExAC: 6:145956418 G / A
• gnomAD v2: 6-145956418-G-A
• gnomAD v3: 6-145635282-G-A
• gnomAD v4: 6-145635282-G-A
• MyVariant Identifiers: chr6:g.145956418G>A (hg19) ; chr6:g.145635282G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145635282G>A , CM000668.2:g.145635282G>A	GRCh38
NC_000006.11:g.145956418G>A , CM000668.1:g.145956418G>A	GRCh37
NC_000006.10:g.145998111G>A	NCBI36
NG_012832.1:g.105574C>T
NG_012832.2:g.105574C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.681C>T MANE Select	ENSP00000356489.3:p.Ala227=
ENST00000435470.2:c.681C>T	ENSP00000405913.2:p.Ala227=
ENST00000450221.6:c.303C>T	ENSP00000414900.2:p.Ala101=
ENST00000611340.5:c.267C>T	ENSP00000480268.1:p.Ala89=
ENST00000638262.1:c.477-7589C>T	ENSP00000492876.1:n.477-7589C>T
ENST00000638554.1:c.620C>T	ENSP00000492823.1:n.620C>T
ENST00000638717.1:c.464C>T
ENST00000638778.1:c.267C>T	ENSP00000491353.1:p.Ala89=
ENST00000638783.1:c.267C>T	ENSP00000491338.1:p.Ala89=
ENST00000639049.1:c.908C>T
ENST00000639423.1:c.267C>T	ENSP00000492701.1:p.Ala89=
ENST00000639465.1:c.267C>T	ENSP00000491180.1:p.Ala89=
ENST00000639648.1:n.262C>T
ENST00000639799.1:n.1222C>T
ENST00000639849.1:c.*215C>T	ENSP00000491224.1:n.*215C>T
ENST00000639859.1:n.6005C>T
ENST00000640225.1:c.*215C>T	ENSP00000492179.1:n.*215C>T
ENST00000640351.1:c.417C>T
ENST00000640980.1:c.63-7589C>T	ENSP00000491191.1:n.63-7589C>T
ENST00000367519.7:c.681C>T	ENSP00000356489.3:p.Ala227=
ENST00000435470.1:c.440C>T
ENST00000450221.5:c.380C>T
ENST00000489412.1:n.300C>T
ENST00000496228.1:n.575C>T
ENST00000611340.4:c.267C>T	ENSP00000480268.1:p.Ala89=
ENST00000618445.4:c.681C>T	ENSP00000480339.1:p.Ala227=
NM_001018041.1:c.681C>T	NP_001018051.1:p.Ala227=
NM_005670.3:c.681C>T	NP_005661.1:p.Ala227=
XM_006715564.2:c.477-7589C>T	XP_006715627.1:n.477-7589C>T
XM_011536113.1:c.681C>T	XP_011534415.1:p.Ala227=
XM_011536114.1:c.681C>T	XP_011534416.1:p.Ala227=
XM_011536116.1:c.267C>T	XP_011534418.1:p.Ala89=
NM_001360057.1:c.477-7589C>T	NP_001346986.1:n.477-7589C>T
NM_001360064.1:c.267C>T	NP_001346993.1:p.Ala89=
NM_001360071.1:c.267C>T	NP_001347000.1:p.Ala89=
NR_153397.1:n.864C>T
NR_153398.1:n.290-7589C>T
XM_011536113.2:c.681C>T	XP_011534415.1:p.Ala227=
XM_017011301.1:c.219C>T	XP_016866790.1:p.Ala73=
XM_017011302.1:c.219C>T	XP_016866791.1:p.Ala73=
XM_024446550.1:c.681C>T	XP_024302318.1:p.Ala227=
XM_024446551.1:c.267C>T	XP_024302319.1:p.Ala89=
NM_005670.4:c.681C>T MANE Select	NP_005661.1:p.Ala227=
NM_001018041.2:c.681C>T	NP_001018051.1:p.Ala227=
NM_001360057.2:c.477-7589C>T	NP_001346986.1:n.477-7589C>T
NM_001360064.2:c.267C>T	NP_001346993.1:p.Ala89=
NM_001360071.2:c.267C>T	NP_001347000.1:p.Ala89=
NM_001368129.2:c.219C>T	NP_001355058.1:p.Ala73=
NM_001368130.1:c.681C>T	NP_001355059.1:p.Ala227=
NM_001368131.1:c.267C>T	NP_001355060.1:p.Ala89=
NM_001368132.1:c.219C>T	NP_001355061.1:p.Ala73=
NR_153398.2:n.292-7589C>T