Canonical Allele Identifier: CA1942505690
Gene: EEF1AKMT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124749376A= , CM000672.2:g.124749376A= GRCh38
NC_000010.10:g.126437945A= , CM000672.1:g.126437945A= GRCh37
NC_000010.9:g.126427935A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000494792.1:c.628+11010T=
ENST00000495711.2:c.187-890T=