Canonical Allele Identifier: CA252549
Gene: EPM2A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3107
dbSNP Id: rs104893955

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.145735405A>C , CM000668.2:g.145735405A>C GRCh38
NC_000006.11:g.146056541A>C , CM000668.1:g.146056541A>C GRCh37
NC_000006.10:g.146098234A>C NCBI36
NG_012832.1:g.5451T>G
NG_012832.2:g.5451T>G

Transcript Alleles

HGVS Amino-acid change
NM_001018041.1:c.94T>G VV NP_001018051.1:p.Trp32Gly
NM_005670.3:c.94T>G VV NP_005661.1:p.Trp32Gly
NR_038246.1:n.52+485A>C
XM_006715564.2:c.94T>G XP_006715627.1:p.Trp32Gly
XM_011536113.1:c.94T>G XP_011534415.1:p.Trp32Gly
XM_011536114.1:c.94T>G XP_011534416.1:p.Trp32Gly
XM_011536115.1:c.94T>G XP_011534417.1:p.Trp32Gly
NM_001360057.1:c.94T>G VV NP_001346986.1:p.Trp32Gly
NM_001360064.1:c.-114+503T>G VV NP_001346993.1:p.=
NM_001360071.1:c.-576T>G VV NP_001347000.1:p.=
NR_153397.1:n.116T>G
NR_153398.1:n.114+503T>G
XM_011536113.2:c.94T>G
XM_024446550.1:c.94T>G XP_024302318.1:p.Trp32Gly
NM_005670.4:c.94T>G VV MANE Preferred
ENST00000367519.7:c.94T>G ENSP00000356489.3:p.Trp32Gly
ENST00000618445.4:c.94T>G ENSP00000480339.1:p.Trp32Gly