Canonical Allele Identifier: CA1046889046

Gene: EPM2AIP1

Linked Data

• dbSNP Id: rs2080857138
• gnomAD v3: 3-36993189-A-AG
• gnomAD v4: 3-36993189-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993191dup , CM000665.2:g.36993191dup	GRCh38
NC_000003.11:g.37034682dup , CM000665.1:g.37034682dup	GRCh37
NC_000003.10:g.37009686dup	NCBI36
NG_007109.2:g.4842dup , LRG_216:g.4842dup
NG_008418.1:g.5115dup

Transcript Alleles

HGVS	Amino-acid Change
NM_014805.3:c.-113dup	NP_055620.1:n.-113dup