Canonical Allele Identifier: CA366187863

Gene: EPM2A EPM2A-DT

Linked Data

• gnomAD v4: 6-145735210-G-T
• MyVariant Identifiers: chr6:g.146056346G>T (hg19) ; chr6:g.145735210G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145735210G>T , CM000668.2:g.145735210G>T	GRCh38
NC_000006.11:g.146056346G>T , CM000668.1:g.146056346G>T	GRCh37
NC_000006.10:g.146098039G>T	NCBI36
NG_012832.1:g.5646C>A
NG_012832.2:g.5646C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.289C>A (EPM2A) MANE Select	ENSP00000356489.3:p.Leu97Ile
ENST00000435470.2:c.289C>A (EPM2A)	ENSP00000405913.2:p.Leu97Ile
ENST00000611340.5:c.-114+786C>A (EPM2A)	ENSP00000480268.1:n.-114+786C>A
ENST00000638262.1:c.289C>A (EPM2A)	ENSP00000492876.1:p.Leu97Ile
ENST00000638554.1:c.67C>A (EPM2A)	ENSP00000492823.1:p.Leu23Ile
ENST00000638717.1:c.72C>A (EPM2A)
ENST00000639049.1:c.261C>A (EPM2A)
ENST00000639423.1:c.-114+698C>A (EPM2A)	ENSP00000492701.1:n.-114+698C>A
ENST00000639649.1:n.217C>A (EPM2A)
ENST00000640297.1:n.305C>A (EPM2A)
ENST00000640351.1:c.37+35C>A (EPM2A)
ENST00000640898.1:n.82+698C>A (EPM2A)
ENST00000640980.1:c.-114+698C>A (EPM2A)	ENSP00000491191.1:n.-114+698C>A
ENST00000367519.7:c.289C>A (EPM2A)	ENSP00000356489.3:p.Leu97Ile
ENST00000435470.1:c.48C>A (EPM2A)
ENST00000618445.4:c.289C>A (EPM2A)	ENSP00000480339.1:p.Leu97Ile
NM_001018041.1:c.289C>A (EPM2A)	NP_001018051.1:p.Leu97Ile
NM_005670.3:c.289C>A (EPM2A)	NP_005661.1:p.Leu97Ile
NR_038246.1:n.52+290G>T (EPM2A-DT)
XM_006715564.2:c.289C>A (EPM2A)	XP_006715627.1:p.Leu97Ile
XM_011536113.1:c.289C>A (EPM2A)	XP_011534415.1:p.Leu97Ile
XM_011536114.1:c.289C>A (EPM2A)	XP_011534416.1:p.Leu97Ile
XM_011536115.1:c.289C>A (EPM2A)	XP_011534417.1:p.Leu97Ile
NM_001360057.1:c.289C>A (EPM2A)	NP_001346986.1:p.Leu97Ile
NM_001360064.1:c.-114+698C>A (EPM2A)	NP_001346993.1:n.-114+698C>A
NM_001360071.1:c.-381C>A (EPM2A)	NP_001347000.1:n.-381C>A
NR_153397.1:n.311C>A (EPM2A)
NR_153398.1:n.114+698C>A (EPM2A)
XM_011536113.2:c.289C>A (EPM2A)	XP_011534415.1:p.Leu97Ile
XM_024446550.1:c.289C>A (EPM2A)	XP_024302318.1:p.Leu97Ile
NM_005670.4:c.289C>A (EPM2A) MANE Select	NP_005661.1:p.Leu97Ile
NM_001018041.2:c.289C>A (EPM2A)	NP_001018051.1:p.Leu97Ile
NM_001360057.2:c.289C>A (EPM2A)	NP_001346986.1:p.Leu97Ile
NM_001360064.2:c.-114+698C>A (EPM2A)	NP_001346993.1:n.-114+698C>A
NM_001360071.2:c.-381C>A (EPM2A)	NP_001347000.1:n.-381C>A
NM_001368129.2:c.-335C>A (EPM2A)	NP_001355058.1:n.-335C>A
NM_001368130.1:c.289C>A (EPM2A)	NP_001355059.1:p.Leu97Ile
NM_001368131.1:c.-114+35C>A (EPM2A)	NP_001355060.1:n.-114+35C>A
NR_153398.2:n.116+698C>A (EPM2A)