Canonical Allele Identifier: CA1046889036

Gene: EPM2AIP1

Linked Data

• dbSNP Id: rs2080856326
• gnomAD v3: 3-36993165-C-G
• gnomAD v4: 3-36993165-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993165C>G , CM000665.2:g.36993165C>G	GRCh38
NC_000003.11:g.37034656C>G , CM000665.1:g.37034656C>G	GRCh37
NC_000003.10:g.37009660C>G	NCBI36
NG_007109.2:g.4816C>G , LRG_216:g.4816C>G
NG_008418.1:g.5140G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322716.7:c.-88G>C	ENSP00000406027.1:n.-88G>C
NM_014805.3:c.-88G>C	NP_055620.1:n.-88G>C