Canonical Allele Identifier: CA542613731
Gene: EPM2AIP1 HGNC NCBI

Linked Data

dbSNP Id: rs1308577315
gnomAD v2: 3-37034696-T-C
gnomAD v3: 3-36993205-T-C
gnomAD v4: 3-36993205-T-C
MyVariant Identifiers: chr3:g.37034696T>C (hg19) chr3:g.36993205T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993205T>C , CM000665.2:g.36993205T>C GRCh38
NC_000003.11:g.37034696T>C , CM000665.1:g.37034696T>C GRCh37
NC_000003.10:g.37009700T>C NCBI36
NG_007109.2:g.4856T>C , LRG_216:g.4856T>C
NG_008418.1:g.5100A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014805.3:c.-128A>G NP_055620.1:n.-128A>G
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