Canonical Allele Identifier: CA1046889039
Gene: EPM2AIP1 HGNC NCBI

Linked Data

dbSNP Id: rs2080856533
gnomAD v3: 3-36993177-T-C
gnomAD v4: 3-36993177-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993177T>C , CM000665.2:g.36993177T>C GRCh38
NC_000003.11:g.37034668T>C , CM000665.1:g.37034668T>C GRCh37
NC_000003.10:g.37009672T>C NCBI36
NG_007109.2:g.4828T>C , LRG_216:g.4828T>C
NG_008418.1:g.5128A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014805.3:c.-100A>G NP_055620.1:n.-100A>G
Search 100 bp 5'
Search 100 bp 3'