Canonical Allele Identifier: CA596567096
Gene: EEF1AKMT2 HGNC NCBI

Linked Data

dbSNP Id: rs1431698015
gnomAD v2: 10-126437913-T-G
gnomAD v3: 10-124749344-T-G
gnomAD v4: 10-124749344-T-G
MyVariant Identifiers: chr10:g.126437913T>G (hg19) chr10:g.124749344T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124749344T>G , CM000672.2:g.124749344T>G GRCh38
NC_000010.10:g.126437913T>G , CM000672.1:g.126437913T>G GRCh37
NC_000010.9:g.126427903T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000494792.1:c.628+11042A>C
ENST00000495711.2:c.187-858A>C
Search 100 bp 5'
Search 100 bp 3'