Canonical Allele Identifier: CA1095473449
Gene: EPM2A HGNC NCBI

Linked Data

dbSNP Id: rs1779086479
gnomAD v3: 6-145443064-G-A
gnomAD v4: 6-145443064-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.145443064G>A , CM000668.2:g.145443064G>A GRCh38
NC_000006.11:g.145764200G>A , CM000668.1:g.145764200G>A GRCh37
NC_000006.10:g.145805893G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000638717.1:c.556-58967C>T
XM_024446550.1:c.773-58967C>T XP_024302318.1:n.773-58967C>T
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