Canonical Allele Identifier: CA366188010

Gene: EPM2A EPM2A-DT

Linked Data

• gnomAD v4: 6-145735279-C-G
• MyVariant Identifiers: chr6:g.146056415C>G (hg19) ; chr6:g.145735279C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145735279C>G , CM000668.2:g.145735279C>G	GRCh38
NC_000006.11:g.146056415C>G , CM000668.1:g.146056415C>G	GRCh37
NC_000006.10:g.146098108C>G	NCBI36
NG_012832.1:g.5577G>C
NG_012832.2:g.5577G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.220G>C (EPM2A) MANE Select	ENSP00000356489.3:p.Asp74His
ENST00000435470.2:c.220G>C (EPM2A)	ENSP00000405913.2:p.Asp74His
ENST00000611340.5:c.-114+717G>C (EPM2A)	ENSP00000480268.1:n.-114+717G>C
ENST00000638262.1:c.220G>C (EPM2A)	ENSP00000492876.1:p.Asp74His
ENST00000638717.1:c.3G>C (EPM2A)
ENST00000639049.1:c.192G>C (EPM2A)
ENST00000639423.1:c.-114+629G>C (EPM2A)	ENSP00000492701.1:n.-114+629G>C
ENST00000639649.1:n.148G>C (EPM2A)
ENST00000640297.1:n.236G>C (EPM2A)
ENST00000640351.1:c.3G>C (EPM2A)
ENST00000640898.1:n.82+629G>C (EPM2A)
ENST00000640980.1:c.-114+629G>C (EPM2A)	ENSP00000491191.1:n.-114+629G>C
ENST00000367519.7:c.220G>C (EPM2A)	ENSP00000356489.3:p.Asp74His
ENST00000618445.4:c.220G>C (EPM2A)	ENSP00000480339.1:p.Asp74His
NM_001018041.1:c.220G>C (EPM2A)	NP_001018051.1:p.Asp74His
NM_005670.3:c.220G>C (EPM2A)	NP_005661.1:p.Asp74His
NR_038246.1:n.52+359C>G (EPM2A-DT)
XM_006715564.2:c.220G>C (EPM2A)	XP_006715627.1:p.Asp74His
XM_011536113.1:c.220G>C (EPM2A)	XP_011534415.1:p.Asp74His
XM_011536114.1:c.220G>C (EPM2A)	XP_011534416.1:p.Asp74His
XM_011536115.1:c.220G>C (EPM2A)	XP_011534417.1:p.Asp74His
NM_001360057.1:c.220G>C (EPM2A)	NP_001346986.1:p.Asp74His
NM_001360064.1:c.-114+629G>C (EPM2A)	NP_001346993.1:n.-114+629G>C
NM_001360071.1:c.-450G>C (EPM2A)	NP_001347000.1:n.-450G>C
NR_153397.1:n.242G>C (EPM2A)
NR_153398.1:n.114+629G>C (EPM2A)
XM_011536113.2:c.220G>C (EPM2A)	XP_011534415.1:p.Asp74His
XM_024446550.1:c.220G>C (EPM2A)	XP_024302318.1:p.Asp74His
NM_005670.4:c.220G>C (EPM2A) MANE Select	NP_005661.1:p.Asp74His
NM_001018041.2:c.220G>C (EPM2A)	NP_001018051.1:p.Asp74His
NM_001360057.2:c.220G>C (EPM2A)	NP_001346986.1:p.Asp74His
NM_001360064.2:c.-114+629G>C (EPM2A)	NP_001346993.1:n.-114+629G>C
NM_001360071.2:c.-450G>C (EPM2A)	NP_001347000.1:n.-450G>C
NM_001368129.2:c.-404G>C (EPM2A)	NP_001355058.1:n.-404G>C
NM_001368130.1:c.220G>C (EPM2A)	NP_001355059.1:p.Asp74His
NM_001368131.1:c.-148G>C (EPM2A)	NP_001355060.1:n.-148G>C
NR_153398.2:n.116+629G>C (EPM2A)