Canonical Allele Identifier: CA1095473465

Gene: EPM2A

Linked Data

• dbSNP Id: rs1779086813
• gnomAD v3: 6-145443083-T-G
• gnomAD v4: 6-145443083-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145443083T>G , CM000668.2:g.145443083T>G	GRCh38
NC_000006.11:g.145764219T>G , CM000668.1:g.145764219T>G	GRCh37
NC_000006.10:g.145805912T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000638717.1:c.556-58986A>C
XM_024446550.1:c.773-58986A>C	XP_024302318.1:n.773-58986A>C