Canonical Allele Identifier: CA542613726
Gene: EPM2AIP1 HGNC NCBI

Linked Data

dbSNP Id: rs1371526371
gnomAD v2: 3-37034662-G-A
gnomAD v3: 3-36993171-G-A
gnomAD v4: 3-36993171-G-A
MyVariant Identifiers: chr3:g.37034662G>A (hg19) chr3:g.36993171G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993171G>A , CM000665.2:g.36993171G>A GRCh38
NC_000003.11:g.37034662G>A , CM000665.1:g.37034662G>A GRCh37
NC_000003.10:g.37009666G>A NCBI36
NG_007109.2:g.4822G>A , LRG_216:g.4822G>A
NG_008418.1:g.5134C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014805.3:c.-94C>T NP_055620.1:n.-94C>T
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