Canonical Allele Identifier: CA149037540
Gene: EPM2A HGNC NCBI

Linked Data

dbSNP Id: rs759456852
gnomAD v2: 6-145764215-G-C
gnomAD v3: 6-145443079-G-C
gnomAD v4: 6-145443079-G-C
MyVariant Identifiers: chr6:g.145764215G>C (hg19) chr6:g.145443079G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.145443079G>C , CM000668.2:g.145443079G>C GRCh38
NC_000006.11:g.145764215G>C , CM000668.1:g.145764215G>C GRCh37
NC_000006.10:g.145805908G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000638717.1:c.556-58982C>G
XM_024446550.1:c.773-58982C>G XP_024302318.1:n.773-58982C>G
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