Canonical Allele Identifier: CA2665005556
Gene: EPM2AIP1 HGNC NCBI

Linked Data

dbSNP Id: rs2125691418
gnomAD v4: 3-36993186-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993186C>T , CM000665.2:g.36993186C>T GRCh38
NC_000003.11:g.37034677C>T , CM000665.1:g.37034677C>T GRCh37
NC_000003.10:g.37009681C>T NCBI36
NG_007109.2:g.4837C>T , LRG_216:g.4837C>T
NG_008418.1:g.5119G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014805.3:c.-109G>A NP_055620.1:n.-109G>A