Canonical Allele Identifier: CA314512

Gene: EPM2A EPM2A-DT

Linked Data

• ClinVar Variation Id: 205440
• ClinVar RCV Id: RCV000187402 ; RCV001852455
• dbSNP Id: rs796052431
• gnomAD v4: 6-145735495-G-A
• MyVariant Identifiers: chr6:g.146056631G>A (hg19) ; chr6:g.145735495G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145735495G>A , CM000668.2:g.145735495G>A	GRCh38
NC_000006.11:g.146056631G>A , CM000668.1:g.146056631G>A	GRCh37
NC_000006.10:g.146098324G>A	NCBI36
NG_012832.1:g.5361C>T
NG_012832.2:g.5361C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.4C>T (EPM2A) MANE Select	ENSP00000356489.3:p.Arg2Cys
ENST00000435470.2:c.4C>T (EPM2A)	ENSP00000405913.2:p.Arg2Cys
ENST00000611340.5:c.-114+501C>T (EPM2A)	ENSP00000480268.1:n.-114+501C>T
ENST00000638262.1:c.4C>T (EPM2A)	ENSP00000492876.1:p.Arg2Cys
ENST00000639423.1:c.-114+413C>T (EPM2A)	ENSP00000492701.1:n.-114+413C>T
ENST00000640297.1:n.20C>T (EPM2A)
ENST00000640898.1:n.82+413C>T (EPM2A)
ENST00000640980.1:c.-114+413C>T (EPM2A)	ENSP00000491191.1:n.-114+413C>T
ENST00000367519.7:c.4C>T (EPM2A)	ENSP00000356489.3:p.Arg2Cys
ENST00000618445.4:c.4C>T (EPM2A)	ENSP00000480339.1:p.Arg2Cys
NM_001018041.1:c.4C>T (EPM2A)	NP_001018051.1:p.Arg2Cys
NM_005670.3:c.4C>T (EPM2A)	NP_005661.1:p.Arg2Cys
NR_038246.1:n.52+575G>A (EPM2A-DT)
XM_006715564.2:c.4C>T (EPM2A)	XP_006715627.1:p.Arg2Cys
XM_011536113.1:c.4C>T (EPM2A)	XP_011534415.1:p.Arg2Cys
XM_011536114.1:c.4C>T (EPM2A)	XP_011534416.1:p.Arg2Cys
XM_011536115.1:c.4C>T (EPM2A)	XP_011534417.1:p.Arg2Cys
NM_001360057.1:c.4C>T (EPM2A)	NP_001346986.1:p.Arg2Cys
NM_001360064.1:c.-114+413C>T (EPM2A)	NP_001346993.1:n.-114+413C>T
NM_001360071.1:c.-666C>T (EPM2A)	NP_001347000.1:n.-666C>T
NR_153397.1:n.26C>T (EPM2A)
NR_153398.1:n.114+413C>T (EPM2A)
XM_011536113.2:c.4C>T (EPM2A)	XP_011534415.1:p.Arg2Cys
XM_024446550.1:c.4C>T (EPM2A)	XP_024302318.1:p.Arg2Cys
NM_005670.4:c.4C>T (EPM2A) MANE Select	NP_005661.1:p.Arg2Cys
NM_001018041.2:c.4C>T (EPM2A)	NP_001018051.1:p.Arg2Cys
NM_001360057.2:c.4C>T (EPM2A)	NP_001346986.1:p.Arg2Cys
NM_001360064.2:c.-114+413C>T (EPM2A)	NP_001346993.1:n.-114+413C>T
NM_001360071.2:c.-666C>T (EPM2A)	NP_001347000.1:n.-666C>T
NM_001368129.2:c.-620C>T (EPM2A)	NP_001355058.1:n.-620C>T
NM_001368130.1:c.4C>T (EPM2A)	NP_001355059.1:p.Arg2Cys
NM_001368131.1:c.-364C>T (EPM2A)	NP_001355060.1:n.-364C>T
NR_153398.2:n.116+413C>T (EPM2A)