Canonical Allele Identifier: CA1670153049
Gene: EPM2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.145443150T= , CM000668.2:g.145443150T= GRCh38
NC_000006.11:g.145764286T= , CM000668.1:g.145764286T= GRCh37
NC_000006.10:g.145805979T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000638717.1:c.556-59053A=
XM_024446550.1:c.773-59053A= XP_024302318.1:n.773-59053A=