Canonical Allele Identifier: CA906755278
Gene: EPM2AIP1 HGNC NCBI

Linked Data

dbSNP Id: rs1245380828
gnomAD v2: 3-37034693-C-T
gnomAD v3: 3-36993202-C-T
gnomAD v4: 3-36993202-C-T
MyVariant Identifiers: chr3:g.37034693C>T (hg19) chr3:g.36993202C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993202C>T , CM000665.2:g.36993202C>T GRCh38
NC_000003.11:g.37034693C>T , CM000665.1:g.37034693C>T GRCh37
NC_000003.10:g.37009697C>T NCBI36
NG_007109.2:g.4853C>T , LRG_216:g.4853C>T
NG_008418.1:g.5103G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014805.3:c.-125G>A NP_055620.1:n.-125G>A
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