Canonical Allele Identifier: CA366187846

Gene: EPM2A EPM2A-DT

Linked Data

• gnomAD v4: 6-145735203-C-A
• MyVariant Identifiers: chr6:g.146056339C>A (hg19) ; chr6:g.145735203C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145735203C>A , CM000668.2:g.145735203C>A	GRCh38
NC_000006.11:g.146056339C>A , CM000668.1:g.146056339C>A	GRCh37
NC_000006.10:g.146098032C>A	NCBI36
NG_012832.1:g.5653G>T
NG_012832.2:g.5653G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.296G>T (EPM2A) MANE Select	ENSP00000356489.3:p.Trp99Leu
ENST00000435470.2:c.296G>T (EPM2A)	ENSP00000405913.2:p.Trp99Leu
ENST00000611340.5:c.-114+793G>T (EPM2A)	ENSP00000480268.1:n.-114+793G>T
ENST00000638262.1:c.296G>T (EPM2A)	ENSP00000492876.1:p.Trp99Leu
ENST00000638554.1:c.74G>T (EPM2A)	ENSP00000492823.1:p.Trp25Leu
ENST00000638717.1:c.79G>T (EPM2A)
ENST00000639049.1:c.268G>T (EPM2A)
ENST00000639423.1:c.-114+705G>T (EPM2A)	ENSP00000492701.1:n.-114+705G>T
ENST00000639649.1:n.224G>T (EPM2A)
ENST00000640297.1:n.312G>T (EPM2A)
ENST00000640351.1:c.37+42G>T (EPM2A)
ENST00000640898.1:n.82+705G>T (EPM2A)
ENST00000640980.1:c.-114+705G>T (EPM2A)	ENSP00000491191.1:n.-114+705G>T
ENST00000367519.7:c.296G>T (EPM2A)	ENSP00000356489.3:p.Trp99Leu
ENST00000435470.1:c.55G>T (EPM2A)
ENST00000618445.4:c.296G>T (EPM2A)	ENSP00000480339.1:p.Trp99Leu
NM_001018041.1:c.296G>T (EPM2A)	NP_001018051.1:p.Trp99Leu
NM_005670.3:c.296G>T (EPM2A)	NP_005661.1:p.Trp99Leu
NR_038246.1:n.52+283C>A (EPM2A-DT)
XM_006715564.2:c.296G>T (EPM2A)	XP_006715627.1:p.Trp99Leu
XM_011536113.1:c.296G>T (EPM2A)	XP_011534415.1:p.Trp99Leu
XM_011536114.1:c.296G>T (EPM2A)	XP_011534416.1:p.Trp99Leu
XM_011536115.1:c.296G>T (EPM2A)	XP_011534417.1:p.Trp99Leu
NM_001360057.1:c.296G>T (EPM2A)	NP_001346986.1:p.Trp99Leu
NM_001360064.1:c.-114+705G>T (EPM2A)	NP_001346993.1:n.-114+705G>T
NM_001360071.1:c.-374G>T (EPM2A)	NP_001347000.1:n.-374G>T
NR_153397.1:n.318G>T (EPM2A)
NR_153398.1:n.114+705G>T (EPM2A)
XM_011536113.2:c.296G>T (EPM2A)	XP_011534415.1:p.Trp99Leu
XM_024446550.1:c.296G>T (EPM2A)	XP_024302318.1:p.Trp99Leu
NM_005670.4:c.296G>T (EPM2A) MANE Select	NP_005661.1:p.Trp99Leu
NM_001018041.2:c.296G>T (EPM2A)	NP_001018051.1:p.Trp99Leu
NM_001360057.2:c.296G>T (EPM2A)	NP_001346986.1:p.Trp99Leu
NM_001360064.2:c.-114+705G>T (EPM2A)	NP_001346993.1:n.-114+705G>T
NM_001360071.2:c.-374G>T (EPM2A)	NP_001347000.1:n.-374G>T
NM_001368129.2:c.-328G>T (EPM2A)	NP_001355058.1:n.-328G>T
NM_001368130.1:c.296G>T (EPM2A)	NP_001355059.1:p.Trp99Leu
NM_001368131.1:c.-114+42G>T (EPM2A)	NP_001355060.1:n.-114+42G>T
NR_153398.2:n.116+705G>T (EPM2A)