Canonical Allele Identifier: CA1095473467

Gene: EPM2A

Linked Data

• dbSNP Id: rs1582759386
• gnomAD v3: 6-145443085-A-C
• gnomAD v4: 6-145443085-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.145443085A>C , CM000668.2:g.145443085A>C	GRCh38
NC_000006.11:g.145764221A>C , CM000668.1:g.145764221A>C	GRCh37
NC_000006.10:g.145805914A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000638717.1:c.556-58988T>G
XM_024446550.1:c.773-58988T>G	XP_024302318.1:n.773-58988T>G