Canonical Allele Identifier: CA915942376

Gene: EPM2AIP1

Linked Data

• ClinVar Variation Id: 823360
• ClinVar RCV Id: RCV001019540
• dbSNP Id: rs1575372721
• gnomAD v4: 3-36993222-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993222C>T , CM000665.2:g.36993222C>T	GRCh38
NC_000003.11:g.37034713C>T , CM000665.1:g.37034713C>T	GRCh37
NC_000003.10:g.37009717C>T	NCBI36
NG_007109.2:g.4873C>T , LRG_216:g.4873C>T
NG_008418.1:g.5083G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014805.3:c.-145G>A	NP_055620.1:n.-145G>A