Canonical Allele Identifier: CA366188002

Gene: EPM2A EPM2A-DT

Linked Data

• dbSNP Id: rs1184012721
• gnomAD v2: 6-146056412-C-A
• gnomAD v4: 6-145735276-C-A
• MyVariant Identifiers: chr6:g.146056412C>A (hg19) ; chr6:g.145735276C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145735276C>A , CM000668.2:g.145735276C>A	GRCh38
NC_000006.11:g.146056412C>A , CM000668.1:g.146056412C>A	GRCh37
NC_000006.10:g.146098105C>A	NCBI36
NG_012832.1:g.5580G>T
NG_012832.2:g.5580G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.223G>T (EPM2A) MANE Select	ENSP00000356489.3:p.Gly75Trp
ENST00000435470.2:c.223G>T (EPM2A)	ENSP00000405913.2:p.Gly75Trp
ENST00000611340.5:c.-114+720G>T (EPM2A)	ENSP00000480268.1:n.-114+720G>T
ENST00000638262.1:c.223G>T (EPM2A)	ENSP00000492876.1:p.Gly75Trp
ENST00000638554.1:c.1G>T (EPM2A)	ENSP00000492823.1:p.Gly1Trp
ENST00000638717.1:c.6G>T (EPM2A)
ENST00000639049.1:c.195G>T (EPM2A)
ENST00000639423.1:c.-114+632G>T (EPM2A)	ENSP00000492701.1:n.-114+632G>T
ENST00000639649.1:n.151G>T (EPM2A)
ENST00000640297.1:n.239G>T (EPM2A)
ENST00000640351.1:c.6G>T (EPM2A)
ENST00000640898.1:n.82+632G>T (EPM2A)
ENST00000640980.1:c.-114+632G>T (EPM2A)	ENSP00000491191.1:n.-114+632G>T
ENST00000367519.7:c.223G>T (EPM2A)	ENSP00000356489.3:p.Gly75Trp
ENST00000618445.4:c.223G>T (EPM2A)	ENSP00000480339.1:p.Gly75Trp
NM_001018041.1:c.223G>T (EPM2A)	NP_001018051.1:p.Gly75Trp
NM_005670.3:c.223G>T (EPM2A)	NP_005661.1:p.Gly75Trp
NR_038246.1:n.52+356C>A (EPM2A-DT)
XM_006715564.2:c.223G>T (EPM2A)	XP_006715627.1:p.Gly75Trp
XM_011536113.1:c.223G>T (EPM2A)	XP_011534415.1:p.Gly75Trp
XM_011536114.1:c.223G>T (EPM2A)	XP_011534416.1:p.Gly75Trp
XM_011536115.1:c.223G>T (EPM2A)	XP_011534417.1:p.Gly75Trp
NM_001360057.1:c.223G>T (EPM2A)	NP_001346986.1:p.Gly75Trp
NM_001360064.1:c.-114+632G>T (EPM2A)	NP_001346993.1:n.-114+632G>T
NM_001360071.1:c.-447G>T (EPM2A)	NP_001347000.1:n.-447G>T
NR_153397.1:n.245G>T (EPM2A)
NR_153398.1:n.114+632G>T (EPM2A)
XM_011536113.2:c.223G>T (EPM2A)	XP_011534415.1:p.Gly75Trp
XM_024446550.1:c.223G>T (EPM2A)	XP_024302318.1:p.Gly75Trp
NM_005670.4:c.223G>T (EPM2A) MANE Select	NP_005661.1:p.Gly75Trp
NM_001018041.2:c.223G>T (EPM2A)	NP_001018051.1:p.Gly75Trp
NM_001360057.2:c.223G>T (EPM2A)	NP_001346986.1:p.Gly75Trp
NM_001360064.2:c.-114+632G>T (EPM2A)	NP_001346993.1:n.-114+632G>T
NM_001360071.2:c.-447G>T (EPM2A)	NP_001347000.1:n.-447G>T
NM_001368129.2:c.-401G>T (EPM2A)	NP_001355058.1:n.-401G>T
NM_001368130.1:c.223G>T (EPM2A)	NP_001355059.1:p.Gly75Trp
NM_001368131.1:c.-145G>T (EPM2A)	NP_001355060.1:n.-145G>T
NR_153398.2:n.116+632G>T (EPM2A)