Canonical Allele Identifier: CA366191429

Gene: EPM2A

Linked Data

• MyVariant Identifiers: chr6:g.145956543T>A (hg19) ; chr6:g.145635407T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145635407T>A , CM000668.2:g.145635407T>A	GRCh38
NC_000006.11:g.145956543T>A , CM000668.1:g.145956543T>A	GRCh37
NC_000006.10:g.145998236T>A	NCBI36
NG_012832.1:g.105449A>T
NG_012832.2:g.105449A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.556A>T MANE Select	ENSP00000356489.3:p.Ile186Phe
ENST00000435470.2:c.556A>T	ENSP00000405913.2:p.Ile186Phe
ENST00000450221.6:c.178A>T	ENSP00000414900.2:p.Ile60Phe
ENST00000496228.2:n.524A>T
ENST00000611340.5:c.142A>T	ENSP00000480268.1:p.Ile48Phe
ENST00000638262.1:c.477-7714A>T	ENSP00000492876.1:n.477-7714A>T
ENST00000638554.1:c.495A>T	ENSP00000492823.1:n.495A>T
ENST00000638717.1:c.339A>T
ENST00000638778.1:c.142A>T	ENSP00000491353.1:p.Ile48Phe
ENST00000638783.1:c.142A>T	ENSP00000491338.1:p.Ile48Phe
ENST00000639049.1:c.783A>T
ENST00000639423.1:c.142A>T	ENSP00000492701.1:p.Ile48Phe
ENST00000639465.1:c.142A>T	ENSP00000491180.1:p.Ile48Phe
ENST00000639648.1:n.137A>T
ENST00000639799.1:n.1097A>T
ENST00000639849.1:c.*90A>T	ENSP00000491224.1:n.*90A>T
ENST00000639859.1:n.5880A>T
ENST00000640225.1:c.*90A>T	ENSP00000492179.1:n.*90A>T
ENST00000640351.1:c.292A>T
ENST00000640980.1:c.63-7714A>T	ENSP00000491191.1:n.63-7714A>T
ENST00000367519.7:c.556A>T	ENSP00000356489.3:p.Ile186Phe
ENST00000435470.1:c.315A>T
ENST00000450221.5:c.255A>T
ENST00000489412.1:n.175A>T
ENST00000496228.1:n.450A>T
ENST00000611340.4:c.142A>T	ENSP00000480268.1:p.Ile48Phe
ENST00000618445.4:c.556A>T	ENSP00000480339.1:p.Ile186Phe
NM_001018041.1:c.556A>T	NP_001018051.1:p.Ile186Phe
NM_005670.3:c.556A>T	NP_005661.1:p.Ile186Phe
XM_006715564.2:c.477-7714A>T	XP_006715627.1:n.477-7714A>T
XM_011536113.1:c.556A>T	XP_011534415.1:p.Ile186Phe
XM_011536114.1:c.556A>T	XP_011534416.1:p.Ile186Phe
XM_011536116.1:c.142A>T	XP_011534418.1:p.Ile48Phe
NM_001360057.1:c.477-7714A>T	NP_001346986.1:n.477-7714A>T
NM_001360064.1:c.142A>T	NP_001346993.1:p.Ile48Phe
NM_001360071.1:c.142A>T	NP_001347000.1:p.Ile48Phe
NR_153397.1:n.739A>T
NR_153398.1:n.290-7714A>T
XM_011536113.2:c.556A>T	XP_011534415.1:p.Ile186Phe
XM_017011301.1:c.94A>T	XP_016866790.1:p.Ile32Phe
XM_017011302.1:c.94A>T	XP_016866791.1:p.Ile32Phe
XM_024446550.1:c.556A>T	XP_024302318.1:p.Ile186Phe
XM_024446551.1:c.142A>T	XP_024302319.1:p.Ile48Phe
NM_005670.4:c.556A>T MANE Select	NP_005661.1:p.Ile186Phe
NM_001018041.2:c.556A>T	NP_001018051.1:p.Ile186Phe
NM_001360057.2:c.477-7714A>T	NP_001346986.1:n.477-7714A>T
NM_001360064.2:c.142A>T	NP_001346993.1:p.Ile48Phe
NM_001360071.2:c.142A>T	NP_001347000.1:p.Ile48Phe
NM_001368129.2:c.94A>T	NP_001355058.1:p.Ile32Phe
NM_001368130.1:c.556A>T	NP_001355059.1:p.Ile186Phe
NM_001368131.1:c.142A>T	NP_001355060.1:p.Ile48Phe
NM_001368132.1:c.94A>T	NP_001355061.1:p.Ile32Phe
NR_153398.2:n.292-7714A>T