Canonical Allele Identifier: CA215622204
Gene: EEF1AKMT2 HGNC NCBI

Linked Data

dbSNP Id: rs10510138
gnomAD v2: 10-126438019-C-T
gnomAD v3: 10-124749450-C-T
gnomAD v4: 10-124749450-C-T
MyVariant Identifiers: chr10:g.126438019C>T (hg19) chr10:g.126438019_126438020delinsTT (hg19) chr10:g.124749450C>T (hg38) chr10:g.124749450_124749451delinsTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124749450C>T , CM000672.2:g.124749450C>T GRCh38
NC_000010.10:g.126438019C>T , CM000672.1:g.126438019C>T GRCh37
NC_000010.9:g.126428009C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000494792.1:c.628+10936G>A
ENST00000495711.2:c.187-964G>A
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