Canonical Allele Identifier: CA366188448

Gene: EPM2A EPM2A-DT

Linked Data

• ClinVar Variation Id: 1437770
• ClinVar RCV Id: RCV001957672 ; RCV002562127
• dbSNP Id: rs2128649883
• gnomAD v4: 6-145735413-A-G
• MyVariant Identifiers: chr6:g.146056549A>G (hg19) ; chr6:g.145735413A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145735413A>G , CM000668.2:g.145735413A>G	GRCh38
NC_000006.11:g.146056549A>G , CM000668.1:g.146056549A>G	GRCh37
NC_000006.10:g.146098242A>G	NCBI36
NG_012832.1:g.5443T>C
NG_012832.2:g.5443T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367519.9:c.86T>C (EPM2A) MANE Select	ENSP00000356489.3:p.Leu29Pro
ENST00000435470.2:c.86T>C (EPM2A)	ENSP00000405913.2:p.Leu29Pro
ENST00000611340.5:c.-114+583T>C (EPM2A)	ENSP00000480268.1:n.-114+583T>C
ENST00000638262.1:c.86T>C (EPM2A)	ENSP00000492876.1:p.Leu29Pro
ENST00000639049.1:c.58T>C (EPM2A)
ENST00000639423.1:c.-114+495T>C (EPM2A)	ENSP00000492701.1:n.-114+495T>C
ENST00000639649.1:n.14T>C (EPM2A)
ENST00000640297.1:n.102T>C (EPM2A)
ENST00000640898.1:n.82+495T>C (EPM2A)
ENST00000640980.1:c.-114+495T>C (EPM2A)	ENSP00000491191.1:n.-114+495T>C
ENST00000367519.7:c.86T>C (EPM2A)	ENSP00000356489.3:p.Leu29Pro
ENST00000618445.4:c.86T>C (EPM2A)	ENSP00000480339.1:p.Leu29Pro
NM_001018041.1:c.86T>C (EPM2A)	NP_001018051.1:p.Leu29Pro
NM_005670.3:c.86T>C (EPM2A)	NP_005661.1:p.Leu29Pro
NR_038246.1:n.52+493A>G (EPM2A-DT)
XM_006715564.2:c.86T>C (EPM2A)	XP_006715627.1:p.Leu29Pro
XM_011536113.1:c.86T>C (EPM2A)	XP_011534415.1:p.Leu29Pro
XM_011536114.1:c.86T>C (EPM2A)	XP_011534416.1:p.Leu29Pro
XM_011536115.1:c.86T>C (EPM2A)	XP_011534417.1:p.Leu29Pro
NM_001360057.1:c.86T>C (EPM2A)	NP_001346986.1:p.Leu29Pro
NM_001360064.1:c.-114+495T>C (EPM2A)	NP_001346993.1:n.-114+495T>C
NM_001360071.1:c.-584T>C (EPM2A)	NP_001347000.1:n.-584T>C
NR_153397.1:n.108T>C (EPM2A)
NR_153398.1:n.114+495T>C (EPM2A)
XM_011536113.2:c.86T>C (EPM2A)	XP_011534415.1:p.Leu29Pro
XM_024446550.1:c.86T>C (EPM2A)	XP_024302318.1:p.Leu29Pro
NM_005670.4:c.86T>C (EPM2A) MANE Select	NP_005661.1:p.Leu29Pro
NM_001018041.2:c.86T>C (EPM2A)	NP_001018051.1:p.Leu29Pro
NM_001360057.2:c.86T>C (EPM2A)	NP_001346986.1:p.Leu29Pro
NM_001360064.2:c.-114+495T>C (EPM2A)	NP_001346993.1:n.-114+495T>C
NM_001360071.2:c.-584T>C (EPM2A)	NP_001347000.1:n.-584T>C
NM_001368129.2:c.-538T>C (EPM2A)	NP_001355058.1:n.-538T>C
NM_001368130.1:c.86T>C (EPM2A)	NP_001355059.1:p.Leu29Pro
NM_001368131.1:c.-282T>C (EPM2A)	NP_001355060.1:n.-282T>C
NR_153398.2:n.116+495T>C (EPM2A)