Canonical Allele Identifier: CA149037542
Gene: EPM2A HGNC NCBI

Linked Data

dbSNP Id: rs1005044188
gnomAD v3: 6-145443095-T-A
gnomAD v4: 6-145443095-T-A
MyVariant Identifiers: chr6:g.145764231T>A (hg19) chr6:g.145443095T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.145443095T>A , CM000668.2:g.145443095T>A GRCh38
NC_000006.11:g.145764231T>A , CM000668.1:g.145764231T>A GRCh37
NC_000006.10:g.145805924T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000638717.1:c.556-58998A>T
XM_024446550.1:c.773-58998A>T XP_024302318.1:n.773-58998A>T
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