Canonical Allele Identifier: CA820292333
Gene: EPM2A HGNC NCBI

Linked Data

dbSNP Id: rs1163456895
gnomAD v3: 6-145443092-C-T
gnomAD v4: 6-145443092-C-T
MyVariant Identifiers: chr6:g.145764228C>T (hg19) chr6:g.145443092C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.145443092C>T , CM000668.2:g.145443092C>T GRCh38
NC_000006.11:g.145764228C>T , CM000668.1:g.145764228C>T GRCh37
NC_000006.10:g.145805921C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000638717.1:c.556-58995G>A
XM_024446550.1:c.773-58995G>A XP_024302318.1:n.773-58995G>A
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