Canonical Allele Identifier: CA1095473458

Gene: EPM2A

Linked Data

• dbSNP Id: rs1779086772
• gnomAD v3: 6-145443080-A-T
• gnomAD v4: 6-145443080-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145443080A>T , CM000668.2:g.145443080A>T	GRCh38
NC_000006.11:g.145764216A>T , CM000668.1:g.145764216A>T	GRCh37
NC_000006.10:g.145805909A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000638717.1:c.556-58983T>A
XM_024446550.1:c.773-58983T>A	XP_024302318.1:n.773-58983T>A