Canonical Allele Identifier: CA596567111

Gene: EEF1AKMT2

Linked Data

• dbSNP Id: rs1226071092
• gnomAD v2: 10-126438086-G-T
• gnomAD v3: 10-124749517-G-T
• gnomAD v4: 10-124749517-G-T
• MyVariant Identifiers: chr10:g.126438086G>T (hg19) ; chr10:g.124749517G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124749517G>T , CM000672.2:g.124749517G>T	GRCh38
NC_000010.10:g.126438086G>T , CM000672.1:g.126438086G>T	GRCh37
NC_000010.9:g.126428076G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494792.1:c.628+10869C>A
ENST00000495711.2:c.187-1031C>A