Canonical Allele Identifier: CA366191121

Gene: EPM2A

Linked Data

• ClinVar Variation Id: 462932
• ClinVar RCV Id: RCV000525708
• dbSNP Id: rs1278542056
• MyVariant Identifiers: chr6:g.145956459G>C (hg19) ; chr6:g.145635323G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145635323G>C , CM000668.2:g.145635323G>C	GRCh38
NC_000006.11:g.145956459G>C , CM000668.1:g.145956459G>C	GRCh37
NC_000006.10:g.145998152G>C	NCBI36
NG_012832.1:g.105533C>G
NG_012832.2:g.105533C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367519.9:c.640C>G MANE Select	ENSP00000356489.3:p.Pro214Ala
ENST00000435470.2:c.640C>G	ENSP00000405913.2:p.Pro214Ala
ENST00000450221.6:c.262C>G	ENSP00000414900.2:p.Pro88Ala
ENST00000611340.5:c.226C>G	ENSP00000480268.1:p.Pro76Ala
ENST00000638262.1:c.477-7630C>G	ENSP00000492876.1:n.477-7630C>G
ENST00000638554.1:c.579C>G	ENSP00000492823.1:n.579C>G
ENST00000638717.1:c.423C>G
ENST00000638778.1:c.226C>G	ENSP00000491353.1:p.Pro76Ala
ENST00000638783.1:c.226C>G	ENSP00000491338.1:p.Pro76Ala
ENST00000639049.1:c.867C>G
ENST00000639423.1:c.226C>G	ENSP00000492701.1:p.Pro76Ala
ENST00000639465.1:c.226C>G	ENSP00000491180.1:p.Pro76Ala
ENST00000639648.1:n.221C>G
ENST00000639799.1:n.1181C>G
ENST00000639849.1:c.*174C>G	ENSP00000491224.1:n.*174C>G
ENST00000639859.1:n.5964C>G
ENST00000640225.1:c.*174C>G	ENSP00000492179.1:n.*174C>G
ENST00000640351.1:c.376C>G
ENST00000640980.1:c.63-7630C>G	ENSP00000491191.1:n.63-7630C>G
ENST00000367519.7:c.640C>G	ENSP00000356489.3:p.Pro214Ala
ENST00000435470.1:c.399C>G
ENST00000450221.5:c.339C>G
ENST00000489412.1:n.259C>G
ENST00000496228.1:n.534C>G
ENST00000611340.4:c.226C>G	ENSP00000480268.1:p.Pro76Ala
ENST00000618445.4:c.640C>G	ENSP00000480339.1:p.Pro214Ala
NM_001018041.1:c.640C>G	NP_001018051.1:p.Pro214Ala
NM_005670.3:c.640C>G	NP_005661.1:p.Pro214Ala
XM_006715564.2:c.477-7630C>G	XP_006715627.1:n.477-7630C>G
XM_011536113.1:c.640C>G	XP_011534415.1:p.Pro214Ala
XM_011536114.1:c.640C>G	XP_011534416.1:p.Pro214Ala
XM_011536116.1:c.226C>G	XP_011534418.1:p.Pro76Ala
NM_001360057.1:c.477-7630C>G	NP_001346986.1:n.477-7630C>G
NM_001360064.1:c.226C>G	NP_001346993.1:p.Pro76Ala
NM_001360071.1:c.226C>G	NP_001347000.1:p.Pro76Ala
NR_153397.1:n.823C>G
NR_153398.1:n.290-7630C>G
XM_011536113.2:c.640C>G	XP_011534415.1:p.Pro214Ala
XM_017011301.1:c.178C>G	XP_016866790.1:p.Pro60Ala
XM_017011302.1:c.178C>G	XP_016866791.1:p.Pro60Ala
XM_024446550.1:c.640C>G	XP_024302318.1:p.Pro214Ala
XM_024446551.1:c.226C>G	XP_024302319.1:p.Pro76Ala
NM_005670.4:c.640C>G MANE Select	NP_005661.1:p.Pro214Ala
NM_001018041.2:c.640C>G	NP_001018051.1:p.Pro214Ala
NM_001360057.2:c.477-7630C>G	NP_001346986.1:n.477-7630C>G
NM_001360064.2:c.226C>G	NP_001346993.1:p.Pro76Ala
NM_001360071.2:c.226C>G	NP_001347000.1:p.Pro76Ala
NM_001368129.2:c.178C>G	NP_001355058.1:p.Pro60Ala
NM_001368130.1:c.640C>G	NP_001355059.1:p.Pro214Ala
NM_001368131.1:c.226C>G	NP_001355060.1:p.Pro76Ala
NM_001368132.1:c.178C>G	NP_001355061.1:p.Pro60Ala
NR_153398.2:n.292-7630C>G