Canonical Allele Identifier: CA2580968548
Gene: EEF1AKMT2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124749450C>G , CM000672.2:g.124749450C>G GRCh38
NC_000010.10:g.126438019C>G , CM000672.1:g.126438019C>G GRCh37
NC_000010.9:g.126428009C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000494792.1:c.628+10936G>C
ENST00000495711.2:c.187-964G>C
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