Canonical Allele Identifier: CA906755274
Gene: EPM2AIP1 HGNC NCBI

Linked Data

dbSNP Id: rs1275894875
gnomAD v3: 3-36993192-C-T
gnomAD v4: 3-36993192-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993192C>T , CM000665.2:g.36993192C>T GRCh38
NC_000003.11:g.37034683C>T , CM000665.1:g.37034683C>T GRCh37
NC_000003.10:g.37009687C>T NCBI36
NG_007109.2:g.4843C>T , LRG_216:g.4843C>T
NG_008418.1:g.5113G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014805.3:c.-115G>A NP_055620.1:n.-115G>A