Canonical Allele Identifier: CA149037541

Gene: EPM2A

Linked Data

• dbSNP Id: rs965651611
• MyVariant Identifiers: chr6:g.145443084G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145443084G>T , CM000668.2:g.145443084G>T	GRCh38
NC_000006.11:g.145764220G>T , CM000668.1:g.145764220G>T	GRCh37
NC_000006.10:g.145805913G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000638717.1:c.556-58987C>A
XM_024446550.1:c.773-58987C>A	XP_024302318.1:n.773-58987C>A