Canonical Allele Identifier: CA215622206

Gene: EEF1AKMT2

Linked Data

• dbSNP Id: rs936245552
• gnomAD v3: 10-124749456-G-A
• gnomAD v4: 10-124749456-G-A
• MyVariant Identifiers: chr10:g.126438025G>A (hg19) ; chr10:g.124749456G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124749456G>A , CM000672.2:g.124749456G>A	GRCh38
NC_000010.10:g.126438025G>A , CM000672.1:g.126438025G>A	GRCh37
NC_000010.9:g.126428015G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494792.1:c.628+10930C>T
ENST00000495711.2:c.187-970C>T