Canonical Allele Identifier: CA4035219

Gene: EPM2A EPM2A-DT

Linked Data

• ClinVar Variation Id: 387544
• ClinVar RCV Id: RCV001704415 ; RCV001861590
• dbSNP Id: rs761970395
• ExAC: 6:146056330 A / G
• gnomAD v2: 6-146056330-A-G
• gnomAD v3: 6-145735194-A-G
• gnomAD v4: 6-145735194-A-G
• MyVariant Identifiers: chr6:g.146056330A>G (hg19) ; chr6:g.145735194A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145735194A>G , CM000668.2:g.145735194A>G	GRCh38
NC_000006.11:g.146056330A>G , CM000668.1:g.146056330A>G	GRCh37
NC_000006.10:g.146098023A>G	NCBI36
NG_012832.1:g.5662T>C
NG_012832.2:g.5662T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367519.9:c.301+4T>C (EPM2A) MANE Select	ENSP00000356489.3:n.301+4T>C
ENST00000435470.2:c.301+4T>C (EPM2A)	ENSP00000405913.2:n.301+4T>C
ENST00000611340.5:c.-114+802T>C (EPM2A)	ENSP00000480268.1:n.-114+802T>C
ENST00000638262.1:c.301+4T>C (EPM2A)	ENSP00000492876.1:n.301+4T>C
ENST00000638554.1:c.79+4T>C (EPM2A)	ENSP00000492823.1:n.79+4T>C
ENST00000638717.1:c.84+4T>C (EPM2A)
ENST00000639049.1:c.273+4T>C (EPM2A)
ENST00000639423.1:c.-114+714T>C (EPM2A)	ENSP00000492701.1:n.-114+714T>C
ENST00000639649.1:n.233T>C (EPM2A)
ENST00000640297.1:n.317+4T>C (EPM2A)
ENST00000640351.1:c.37+51T>C (EPM2A)
ENST00000640898.1:n.82+714T>C (EPM2A)
ENST00000640980.1:c.-114+714T>C (EPM2A)	ENSP00000491191.1:n.-114+714T>C
ENST00000367519.7:c.301+4T>C (EPM2A)	ENSP00000356489.3:n.301+4T>C
ENST00000435470.1:c.60+4T>C (EPM2A)
ENST00000618445.4:c.301+4T>C (EPM2A)	ENSP00000480339.1:n.301+4T>C
NM_001018041.1:c.301+4T>C (EPM2A)	NP_001018051.1:n.301+4T>C
NM_005670.3:c.301+4T>C (EPM2A)	NP_005661.1:n.301+4T>C
NR_038246.1:n.52+274A>G (EPM2A-DT)
XM_006715564.2:c.301+4T>C (EPM2A)	XP_006715627.1:n.301+4T>C
XM_011536113.1:c.301+4T>C (EPM2A)	XP_011534415.1:n.301+4T>C
XM_011536114.1:c.301+4T>C (EPM2A)	XP_011534416.1:n.301+4T>C
XM_011536115.1:c.301+4T>C (EPM2A)	XP_011534417.1:n.301+4T>C
NM_001360057.1:c.301+4T>C (EPM2A)	NP_001346986.1:n.301+4T>C
NM_001360064.1:c.-114+714T>C (EPM2A)	NP_001346993.1:n.-114+714T>C
NM_001360071.1:c.-369+4T>C (EPM2A)	NP_001347000.1:n.-369+4T>C
NR_153397.1:n.323+4T>C (EPM2A)
NR_153398.1:n.114+714T>C (EPM2A)
XM_011536113.2:c.301+4T>C (EPM2A)	XP_011534415.1:n.301+4T>C
XM_024446550.1:c.301+4T>C (EPM2A)	XP_024302318.1:n.301+4T>C
NM_005670.4:c.301+4T>C (EPM2A) MANE Select	NP_005661.1:n.301+4T>C
NM_001018041.2:c.301+4T>C (EPM2A)	NP_001018051.1:n.301+4T>C
NM_001360057.2:c.301+4T>C (EPM2A)	NP_001346986.1:n.301+4T>C
NM_001360064.2:c.-114+714T>C (EPM2A)	NP_001346993.1:n.-114+714T>C
NM_001360071.2:c.-369+4T>C (EPM2A)	NP_001347000.1:n.-369+4T>C
NM_001368129.2:c.-323+4T>C (EPM2A)	NP_001355058.1:n.-323+4T>C
NM_001368130.1:c.301+4T>C (EPM2A)	NP_001355059.1:n.301+4T>C
NM_001368131.1:c.-114+51T>C (EPM2A)	NP_001355060.1:n.-114+51T>C
NR_153398.2:n.116+714T>C (EPM2A)