Canonical Allele Identifier: CA314480

Gene: EPM2A EPM2A-DT

Linked Data

• ClinVar Variation Id: 205424
• ClinVar RCV Id: RCV002317094 ; RCV003607255
• dbSNP Id: rs753397854
• ExAC: 6:146056487 C / T
• gnomAD v2: 6-146056487-C-T
• gnomAD v3: 6-145735351-C-T
• gnomAD v4: 6-145735351-C-T
• MyVariant Identifiers: chr6:g.146056487C>T (hg19) ; chr6:g.145735351C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145735351C>T , CM000668.2:g.145735351C>T	GRCh38
NC_000006.11:g.146056487C>T , CM000668.1:g.146056487C>T	GRCh37
NC_000006.10:g.146098180C>T	NCBI36
NG_012832.1:g.5505G>A
NG_012832.2:g.5505G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367519.9:c.148G>A (EPM2A) MANE Select	ENSP00000356489.3:p.Gly50Arg
ENST00000435470.2:c.148G>A (EPM2A)	ENSP00000405913.2:p.Gly50Arg
ENST00000611340.5:c.-114+645G>A (EPM2A)	ENSP00000480268.1:n.-114+645G>A
ENST00000638262.1:c.148G>A (EPM2A)	ENSP00000492876.1:p.Gly50Arg
ENST00000639049.1:c.120G>A (EPM2A)
ENST00000639423.1:c.-114+557G>A (EPM2A)	ENSP00000492701.1:n.-114+557G>A
ENST00000639649.1:n.76G>A (EPM2A)
ENST00000640297.1:n.164G>A (EPM2A)
ENST00000640898.1:n.82+557G>A (EPM2A)
ENST00000640980.1:c.-114+557G>A (EPM2A)	ENSP00000491191.1:n.-114+557G>A
ENST00000367519.7:c.148G>A (EPM2A)	ENSP00000356489.3:p.Gly50Arg
ENST00000618445.4:c.148G>A (EPM2A)	ENSP00000480339.1:p.Gly50Arg
NM_001018041.1:c.148G>A (EPM2A)	NP_001018051.1:p.Gly50Arg
NM_005670.3:c.148G>A (EPM2A)	NP_005661.1:p.Gly50Arg
NR_038246.1:n.52+431C>T (EPM2A-DT)
XM_006715564.2:c.148G>A (EPM2A)	XP_006715627.1:p.Gly50Arg
XM_011536113.1:c.148G>A (EPM2A)	XP_011534415.1:p.Gly50Arg
XM_011536114.1:c.148G>A (EPM2A)	XP_011534416.1:p.Gly50Arg
XM_011536115.1:c.148G>A (EPM2A)	XP_011534417.1:p.Gly50Arg
NM_001360057.1:c.148G>A (EPM2A)	NP_001346986.1:p.Gly50Arg
NM_001360064.1:c.-114+557G>A (EPM2A)	NP_001346993.1:n.-114+557G>A
NM_001360071.1:c.-522G>A (EPM2A)	NP_001347000.1:n.-522G>A
NR_153397.1:n.170G>A (EPM2A)
NR_153398.1:n.114+557G>A (EPM2A)
XM_011536113.2:c.148G>A (EPM2A)	XP_011534415.1:p.Gly50Arg
XM_024446550.1:c.148G>A (EPM2A)	XP_024302318.1:p.Gly50Arg
NM_005670.4:c.148G>A (EPM2A) MANE Select	NP_005661.1:p.Gly50Arg
NM_001018041.2:c.148G>A (EPM2A)	NP_001018051.1:p.Gly50Arg
NM_001360057.2:c.148G>A (EPM2A)	NP_001346986.1:p.Gly50Arg
NM_001360064.2:c.-114+557G>A (EPM2A)	NP_001346993.1:n.-114+557G>A
NM_001360071.2:c.-522G>A (EPM2A)	NP_001347000.1:n.-522G>A
NM_001368129.2:c.-476G>A (EPM2A)	NP_001355058.1:n.-476G>A
NM_001368130.1:c.148G>A (EPM2A)	NP_001355059.1:p.Gly50Arg
NM_001368131.1:c.-220G>A (EPM2A)	NP_001355060.1:n.-220G>A
NR_153398.2:n.116+557G>A (EPM2A)