Canonical Allele Identifier: CA355383392

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1397282387
• gnomAD v2: 3-183857894-T-A
• gnomAD v4: 3-184140106-T-A
• MyVariant Identifiers: chr3:g.183857894T>A (hg19) ; chr3:g.184140106T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140106T>A , CM000665.2:g.184140106T>A	GRCh38
NC_000003.11:g.183857894T>A , CM000665.1:g.183857894T>A	GRCh37
NC_000003.10:g.185340588T>A	NCBI36
NG_015826.1:g.10085T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.815T>A
ENST00000468748.7:n.775T>A
ENST00000484154.2:n.1387-1819T>A
ENST00000491008.6:n.1540T>A
ENST00000492226.2:n.789T>A
ENST00000492773.6:c.546T>A
ENST00000647636.1:c.792T>A	ENSP00000497505.1:p.Phe264Leu
ENST00000647909.1:c.816T>A	ENSP00000498164.1:p.Phe272Leu
ENST00000648145.1:c.560T>A
ENST00000648189.1:c.542T>A
ENST00000648256.1:c.764T>A	ENSP00000497356.1:p.Leu255Ter
ENST00000648314.1:c.792T>A	ENSP00000496920.1:p.Phe264Leu
ENST00000648599.1:c.*75T>A	ENSP00000497159.1:n.*75T>A
ENST00000648630.1:c.786T>A	ENSP00000497887.1:p.Phe262Leu
ENST00000648682.1:c.792T>A	ENSP00000498185.1:p.Phe264Leu
ENST00000648882.1:c.*618T>A	ENSP00000497603.1:n.*618T>A
ENST00000648890.1:c.792T>A	ENSP00000497503.1:p.Phe264Leu
ENST00000648915.2:c.792T>A MANE Select	ENSP00000497160.1:p.Phe264Leu
ENST00000649545.1:c.526T>A
ENST00000649688.1:c.*75T>A	ENSP00000497097.1:n.*75T>A
ENST00000649814.1:n.841T>A
ENST00000650270.1:c.659T>A
ENST00000273783.7:c.792T>A	ENSP00000273783.3:p.Phe264Leu
ENST00000432982.5:c.246-2131T>A
ENST00000444495.1:c.792T>A	ENSP00000409142.1:p.Phe264Leu
ENST00000468748.5:n.245T>A
ENST00000479833.1:n.108T>A
ENST00000481054.5:n.886T>A
ENST00000491008.5:n.756T>A
ENST00000491144.5:n.1232T>A
NM_003907.2:c.792T>A	NP_003898.2:p.Phe264Leu
XM_011513265.1:c.42T>A	XP_011511567.1:p.Phe14Leu
XR_924208.1:n.1743T>A
NM_003907.3:c.792T>A MANE Select	NP_003898.2:p.Phe264Leu
XM_011513266.3:c.-110T>A	XP_011511568.1:n.-110T>A
XR_001740352.2:n.1155T>A
XR_001740353.2:n.1155T>A
XR_924208.2:n.1155T>A