Canonical Allele Identifier: CA2665005613
Gene: EPM2AIP1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993217-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993217T>G , CM000665.2:g.36993217T>G GRCh38
NC_000003.11:g.37034708T>G , CM000665.1:g.37034708T>G GRCh37
NC_000003.10:g.37009712T>G NCBI36
NG_007109.2:g.4868T>G , LRG_216:g.4868T>G
NG_008418.1:g.5088A>C

Transcript Alleles

HGVS Amino-acid Change
NM_014805.3:c.-140A>C NP_055620.1:n.-140A>C