Canonical Allele Identifier: CA149183035

Gene: EPM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145625446A>G , CM000668.2:g.145625446A>G	GRCh38
NC_000006.11:g.145946582A>G , CM000668.1:g.145946582A>G	GRCh37
NC_000006.10:g.145988275A>G	NCBI36
NG_012832.1:g.115410T>C
NG_012832.2:g.115410T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005670.4:c.*1970T>C MANE Select	NP_005661.1:n.*1970T>C
ENST00000367519.9:c.*1970T>C MANE Select	ENSP00000356489.3:n.*1970T>C
NM_001018041.1:c.*249T>C	NP_001018051.1:n.*249T>C
NM_001018041.2:c.*249T>C	NP_001018051.1:n.*249T>C
NM_001360057.1:c.*2049T>C	NP_001346986.1:n.*2049T>C
NM_001360057.2:c.*2049T>C	NP_001346986.1:n.*2049T>C
NM_001360064.1:c.*1970T>C	NP_001346993.1:n.*1970T>C
NM_001360064.2:c.*1970T>C	NP_001346993.1:n.*1970T>C
NM_001360071.1:c.*1970T>C	NP_001347000.1:n.*1970T>C
NM_001360071.2:c.*1970T>C	NP_001347000.1:n.*1970T>C
NM_001368129.2:c.*1970T>C	NP_001355058.1:n.*1970T>C
NM_001368131.1:c.*1970T>C	NP_001355060.1:n.*1970T>C
NM_001368132.1:c.*1970T>C	NP_001355061.1:n.*1970T>C
NM_005670.3:c.*1970T>C	NP_005661.1:n.*1970T>C
NR_153397.1:n.3149T>C
NR_153398.1:n.2537T>C
NR_153398.2:n.2539T>C
ENST00000367519.7:c.*1970T>C	ENSP00000356489.3:n.*1970T>C
ENST00000435470.1:c.962T>C
ENST00000435470.2:c.1203T>C	ENSP00000405913.2:n.1203T>C
ENST00000450221.5:c.417+9799T>C
ENST00000450221.6:c.340+9799T>C	ENSP00000414900.2:n.340+9799T>C
ENST00000611340.4:c.*1970T>C	ENSP00000480268.1:n.*1970T>C
ENST00000611340.5:c.*1970T>C	ENSP00000480268.1:n.*1970T>C
ENST00000618445.4:c.*249T>C	ENSP00000480339.1:n.*249T>C
ENST00000638554.1:c.2905T>C	ENSP00000492823.1:n.2905T>C
ENST00000638717.1:c.501+9799T>C
ENST00000639049.1:c.3193T>C
ENST00000639423.1:c.*1970T>C	ENSP00000492701.1:n.*1970T>C
ENST00000639799.1:n.3507T>C
XM_006715564.2:c.*2049T>C	XP_006715627.1:n.*2049T>C
XM_011536113.1:c.718+9799T>C	XP_011534415.1:n.718+9799T>C
XM_011536113.2:c.718+9799T>C	XP_011534415.1:n.718+9799T>C
XM_011536114.1:c.718+9799T>C	XP_011534416.1:n.718+9799T>C
XM_011536116.1:c.*1970T>C	XP_011534418.1:n.*1970T>C
XM_017011301.1:c.*1970T>C	XP_016866790.1:n.*1970T>C
XM_017011302.1:c.*1970T>C	XP_016866791.1:n.*1970T>C
XM_024446550.1:c.718+9799T>C	XP_024302318.1:n.718+9799T>C
XM_024446551.1:c.*1970T>C	XP_024302319.1:n.*1970T>C