Canonical Allele Identifier: CA1942505717
Gene: EEF1AKMT2 HGNC NCBI

Linked Data

dbSNP Id: rs1328404500

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124749440G>A , CM000672.2:g.124749440G>A GRCh38
NC_000010.10:g.126438009G>A , CM000672.1:g.126438009G>A GRCh37
NC_000010.9:g.126427999G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000494792.1:c.628+10946C>T
ENST00000495711.2:c.187-954C>T