Canonical Allele Identifier: CA149037546
Gene: EPM2A HGNC NCBI

Linked Data

dbSNP Id: rs976904385
gnomAD v3: 6-145443099-C-A
gnomAD v4: 6-145443099-C-A
MyVariant Identifiers: chr6:g.145764235C>A (hg19) chr6:g.145443099C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.145443099C>A , CM000668.2:g.145443099C>A GRCh38
NC_000006.11:g.145764235C>A , CM000668.1:g.145764235C>A GRCh37
NC_000006.10:g.145805928C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000638717.1:c.556-59002G>T
XM_024446550.1:c.773-59002G>T XP_024302318.1:n.773-59002G>T
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