Canonical Allele Identifier: CA366190886

Gene: EPM2A

Linked Data

• dbSNP Id: rs1179064700
• gnomAD v2: 6-145956409-C-A
• gnomAD v4: 6-145635273-C-A
• MyVariant Identifiers: chr6:g.145956409C>A (hg19) ; chr6:g.145635273C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145635273C>A , CM000668.2:g.145635273C>A	GRCh38
NC_000006.11:g.145956409C>A , CM000668.1:g.145956409C>A	GRCh37
NC_000006.10:g.145998102C>A	NCBI36
NG_012832.1:g.105583G>T
NG_012832.2:g.105583G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.690G>T MANE Select	ENSP00000356489.3:p.Trp230Cys
ENST00000435470.2:c.690G>T	ENSP00000405913.2:p.Trp230Cys
ENST00000450221.6:c.312G>T	ENSP00000414900.2:p.Trp104Cys
ENST00000611340.5:c.276G>T	ENSP00000480268.1:p.Trp92Cys
ENST00000638262.1:c.477-7580G>T	ENSP00000492876.1:n.477-7580G>T
ENST00000638554.1:c.629G>T	ENSP00000492823.1:n.629G>T
ENST00000638717.1:c.473G>T
ENST00000638778.1:c.276G>T	ENSP00000491353.1:p.Trp92Cys
ENST00000638783.1:c.276G>T	ENSP00000491338.1:p.Trp92Cys
ENST00000639049.1:c.917G>T
ENST00000639423.1:c.276G>T	ENSP00000492701.1:p.Trp92Cys
ENST00000639465.1:c.276G>T	ENSP00000491180.1:p.Trp92Cys
ENST00000639648.1:n.271G>T
ENST00000639799.1:n.1231G>T
ENST00000639849.1:c.*224G>T	ENSP00000491224.1:n.*224G>T
ENST00000639859.1:n.6014G>T
ENST00000640225.1:c.*224G>T	ENSP00000492179.1:n.*224G>T
ENST00000640351.1:c.426G>T
ENST00000640980.1:c.63-7580G>T	ENSP00000491191.1:n.63-7580G>T
ENST00000367519.7:c.690G>T	ENSP00000356489.3:p.Trp230Cys
ENST00000435470.1:c.449G>T
ENST00000450221.5:c.389G>T
ENST00000489412.1:n.309G>T
ENST00000496228.1:n.584G>T
ENST00000611340.4:c.276G>T	ENSP00000480268.1:p.Trp92Cys
ENST00000618445.4:c.690G>T	ENSP00000480339.1:p.Trp230Cys
NM_001018041.1:c.690G>T	NP_001018051.1:p.Trp230Cys
NM_005670.3:c.690G>T	NP_005661.1:p.Trp230Cys
XM_006715564.2:c.477-7580G>T	XP_006715627.1:n.477-7580G>T
XM_011536113.1:c.690G>T	XP_011534415.1:p.Trp230Cys
XM_011536114.1:c.690G>T	XP_011534416.1:p.Trp230Cys
XM_011536116.1:c.276G>T	XP_011534418.1:p.Trp92Cys
NM_001360057.1:c.477-7580G>T	NP_001346986.1:n.477-7580G>T
NM_001360064.1:c.276G>T	NP_001346993.1:p.Trp92Cys
NM_001360071.1:c.276G>T	NP_001347000.1:p.Trp92Cys
NR_153397.1:n.873G>T
NR_153398.1:n.290-7580G>T
XM_011536113.2:c.690G>T	XP_011534415.1:p.Trp230Cys
XM_017011301.1:c.228G>T	XP_016866790.1:p.Trp76Cys
XM_017011302.1:c.228G>T	XP_016866791.1:p.Trp76Cys
XM_024446550.1:c.690G>T	XP_024302318.1:p.Trp230Cys
XM_024446551.1:c.276G>T	XP_024302319.1:p.Trp92Cys
NM_005670.4:c.690G>T MANE Select	NP_005661.1:p.Trp230Cys
NM_001018041.2:c.690G>T	NP_001018051.1:p.Trp230Cys
NM_001360057.2:c.477-7580G>T	NP_001346986.1:n.477-7580G>T
NM_001360064.2:c.276G>T	NP_001346993.1:p.Trp92Cys
NM_001360071.2:c.276G>T	NP_001347000.1:p.Trp92Cys
NM_001368129.2:c.228G>T	NP_001355058.1:p.Trp76Cys
NM_001368130.1:c.690G>T	NP_001355059.1:p.Trp230Cys
NM_001368131.1:c.276G>T	NP_001355060.1:p.Trp92Cys
NM_001368132.1:c.228G>T	NP_001355061.1:p.Trp76Cys
NR_153398.2:n.292-7580G>T