Canonical Allele Identifier: CA215622203
Gene: EEF1AKMT2 HGNC NCBI

Linked Data

dbSNP Id: rs1033146204

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124749439A>G , CM000672.2:g.124749439A>G GRCh38
NC_000010.10:g.126438008A>G , CM000672.1:g.126438008A>G GRCh37
NC_000010.9:g.126427998A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000494792.1:c.628+10947T>C
ENST00000495711.2:c.187-953T>C