Canonical Allele Identifier: CA596567109
Gene: EEF1AKMT2 HGNC NCBI

Linked Data

dbSNP Id: rs1307248156
gnomAD v2: 10-126438074-T-C
gnomAD v3: 10-124749505-T-C
gnomAD v4: 10-124749505-T-C
MyVariant Identifiers: chr10:g.126438074T>C (hg19) chr10:g.124749505T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124749505T>C , CM000672.2:g.124749505T>C GRCh38
NC_000010.10:g.126438074T>C , CM000672.1:g.126438074T>C GRCh37
NC_000010.9:g.126428064T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000494792.1:c.628+10881A>G
ENST00000495711.2:c.187-1019A>G
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