Canonical Allele Identifier: CA149037505
Gene: EPM2A HGNC NCBI

Linked Data

dbSNP Id: rs915551261
MyVariant Identifiers: chr6:g.145764189A>C (hg19) chr6:g.145443053A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.145443053A>C , CM000668.2:g.145443053A>C GRCh38
NC_000006.11:g.145764189A>C , CM000668.1:g.145764189A>C GRCh37
NC_000006.10:g.145805882A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000638717.1:c.556-58956T>G
XM_024446550.1:c.773-58956T>G XP_024302318.1:n.773-58956T>G
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