Canonical Allele Identifier: CA10578183

Gene: EPM2AIP1

Linked Data

• ClinVar Variation Id: 229917
• ClinVar RCV Id: RCV000221130
• dbSNP Id: rs876658267
• gnomAD v4: 3-36993214-C-T
• MyVariant Identifiers: chr3:g.37034705C>T (hg19) ; chr3:g.36993214C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993214C>T , CM000665.2:g.36993214C>T	GRCh38
NC_000003.11:g.37034705C>T , CM000665.1:g.37034705C>T	GRCh37
NC_000003.10:g.37009709C>T	NCBI36
NG_007109.2:g.4865C>T , LRG_216:g.4865C>T
NG_008418.1:g.5091G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014805.3:c.-137G>A	NP_055620.1:n.-137G>A