Canonical Allele Identifier: CA548794244

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1423235333
• gnomAD v2: 3-183853161-G-A
• gnomAD v4: 3-184135373-G-A
• MyVariant Identifiers: chr3:g.183853161G>A (hg19) ; chr3:g.184135373G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135373G>A , CM000665.2:g.184135373G>A	GRCh38
NC_000003.11:g.183853161G>A , CM000665.1:g.183853161G>A	GRCh37
NC_000003.10:g.185335855G>A	NCBI36
NG_015826.1:g.5352G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.-13G>A	ENSP00000414775.1:n.-13G>A
ENST00000465218.3:n.11G>A
ENST00000471832.2:c.-13G>A	ENSP00000497786.1:n.-13G>A
ENST00000647636.1:c.-13G>A	ENSP00000497505.1:n.-13G>A
ENST00000648314.1:c.-13G>A	ENSP00000496920.1:n.-13G>A
ENST00000648915.2:c.-13G>A MANE Select	ENSP00000497160.1:n.-13G>A
ENST00000649814.1:n.37G>A
ENST00000273783.7:c.-13G>A	ENSP00000273783.3:n.-13G>A
ENST00000432569.1:c.-13G>A	ENSP00000414775.1:n.-13G>A
ENST00000491144.5:n.336G>A
NM_003907.2:c.-13G>A	NP_003898.2:n.-13G>A
XR_924208.1:n.939G>A
NM_003907.3:c.-13G>A MANE Select	NP_003898.2:n.-13G>A
XR_001740352.2:n.351G>A
XR_001740353.2:n.351G>A
XR_924208.2:n.351G>A