Canonical Allele Identifier: CA1670153014
Gene: EPM2A HGNC NCBI

Linked Data

dbSNP Id: rs1779086577
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.145443069C>A , CM000668.2:g.145443069C>A GRCh38
NC_000006.11:g.145764205C>A , CM000668.1:g.145764205C>A GRCh37
NC_000006.10:g.145805898C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000638717.1:c.556-58972G>T
XM_024446550.1:c.773-58972G>T XP_024302318.1:n.773-58972G>T
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