Canonical Allele Identifier: CA915942375

Gene: EPM2AIP1

Linked Data

• ClinVar Variation Id: 823690
• ClinVar RCV Id: RCV001020143
• dbSNP Id: rs1575372692
• gnomAD v3: 3-36993211-C-T
• gnomAD v4: 3-36993211-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993211C>T , CM000665.2:g.36993211C>T	GRCh38
NC_000003.11:g.37034702C>T , CM000665.1:g.37034702C>T	GRCh37
NC_000003.10:g.37009706C>T	NCBI36
NG_007109.2:g.4862C>T , LRG_216:g.4862C>T
NG_008418.1:g.5094G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014805.3:c.-134G>A	NP_055620.1:n.-134G>A