Canonical Allele Identifier: CA2665005598

Gene: EPM2AIP1

Linked Data

• dbSNP Id: rs2125691477
• gnomAD v4: 3-36993208-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993208C>T , CM000665.2:g.36993208C>T	GRCh38
NC_000003.11:g.37034699C>T , CM000665.1:g.37034699C>T	GRCh37
NC_000003.10:g.37009703C>T	NCBI36
NG_007109.2:g.4859C>T , LRG_216:g.4859C>T
NG_008418.1:g.5097G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014805.3:c.-131G>A	NP_055620.1:n.-131G>A