Canonical Allele Identifier: CA149037497
Gene: EPM2A HGNC NCBI

Linked Data

dbSNP Id: rs543055386
gnomAD v3: 6-145443052-T-C
gnomAD v4: 6-145443052-T-C
MyVariant Identifiers: chr6:g.145764188T>C (hg19) chr6:g.145443052T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.145443052T>C , CM000668.2:g.145443052T>C GRCh38
NC_000006.11:g.145764188T>C , CM000668.1:g.145764188T>C GRCh37
NC_000006.10:g.145805881T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000638717.1:c.556-58955A>G
XM_024446550.1:c.773-58955A>G XP_024302318.1:n.773-58955A>G
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