Canonical Allele Identifier: CA596567103
Gene: EEF1AKMT2 HGNC NCBI

Linked Data

dbSNP Id: rs1442221948
gnomAD v2: 10-126437990-A-G
gnomAD v3: 10-124749421-A-G
gnomAD v4: 10-124749421-A-G
MyVariant Identifiers: chr10:g.126437990A>G (hg19) chr10:g.124749421A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124749421A>G , CM000672.2:g.124749421A>G GRCh38
NC_000010.10:g.126437990A>G , CM000672.1:g.126437990A>G GRCh37
NC_000010.9:g.126427980A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000494792.1:c.628+10965T>C
ENST00000495711.2:c.187-935T>C
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