Canonical Allele Identifier: CA215622202

Gene: EEF1AKMT2

Linked Data

• dbSNP Id: rs1000772867
• gnomAD v3: 10-124749428-A-G
• gnomAD v4: 10-124749428-A-G
• MyVariant Identifiers: chr10:g.126437997A>G (hg19) ; chr10:g.124749428A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124749428A>G , CM000672.2:g.124749428A>G	GRCh38
NC_000010.10:g.126437997A>G , CM000672.1:g.126437997A>G	GRCh37
NC_000010.9:g.126427987A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000494792.1:c.628+10958T>C
ENST00000495711.2:c.187-942T>C