Canonical Allele Identifier: CA1942505757
Gene: EEF1AKMT2 HGNC NCBI

Linked Data

dbSNP Id: rs1950249069

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124749512G>T , CM000672.2:g.124749512G>T GRCh38
NC_000010.10:g.126438081G>T , CM000672.1:g.126438081G>T GRCh37
NC_000010.9:g.126428071G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000494792.1:c.628+10874C>A
ENST00000495711.2:c.187-1026C>A