Canonical Allele Identifier: CA906755247

Gene: EPM2AIP1

Linked Data

• ClinVar Variation Id: 2074190
• ClinVar RCV Id: RCV002976090
• dbSNP Id: rs1184999757
• gnomAD v3: 3-36993179-A-G
• gnomAD v4: 3-36993179-A-G
• MyVariant Identifiers: chr3:g.37034670A>G (hg19) ; chr3:g.36993179A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993179A>G , CM000665.2:g.36993179A>G	GRCh38
NC_000003.11:g.37034670A>G , CM000665.1:g.37034670A>G	GRCh37
NC_000003.10:g.37009674A>G	NCBI36
NG_007109.2:g.4830A>G , LRG_216:g.4830A>G
NG_008418.1:g.5126T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014805.3:c.-102T>C	NP_055620.1:n.-102T>C