Canonical Allele Identifier: CA2553333002
Gene: EEF1AKMT2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124749312C>A , CM000672.2:g.124749312C>A GRCh38
NC_000010.10:g.126437881C>A , CM000672.1:g.126437881C>A GRCh37
NC_000010.9:g.126427871C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000494792.1:c.628+11074G>T
ENST00000495711.2:c.187-826G>T
Search 100 bp 5'
Search 100 bp 3'