Canonical Allele Identifier: CA2665005517
Gene: EPM2AIP1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993166-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993166T>C , CM000665.2:g.36993166T>C GRCh38
NC_000003.11:g.37034657T>C , CM000665.1:g.37034657T>C GRCh37
NC_000003.10:g.37009661T>C NCBI36
NG_007109.2:g.4817T>C , LRG_216:g.4817T>C
NG_008418.1:g.5139A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322716.7:c.-89A>G ENSP00000406027.1:n.-89A>G
NM_014805.3:c.-89A>G NP_055620.1:n.-89A>G
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