Canonical Allele Identifier: CA355382000

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184137759-G-A
• MyVariant Identifiers: chr3:g.183855547G>A (hg19) ; chr3:g.184137759G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137759G>A , CM000665.2:g.184137759G>A	GRCh38
NC_000003.11:g.183855547G>A , CM000665.1:g.183855547G>A	GRCh37
NC_000003.10:g.185338241G>A	NCBI36
NG_015826.1:g.7738G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.483G>A
ENST00000468748.7:n.443G>A
ENST00000484154.2:n.1081G>A
ENST00000491008.6:n.1208G>A
ENST00000492226.2:n.457G>A
ENST00000492773.6:c.192G>A
ENST00000647636.1:c.460G>A	ENSP00000497505.1:p.Asp154Asn
ENST00000647909.1:c.460G>A	ENSP00000498164.1:p.Asp154Asn
ENST00000648145.1:c.228G>A
ENST00000648189.1:c.210G>A
ENST00000648256.1:c.409G>A	ENSP00000497356.1:p.Asp137Asn
ENST00000648314.1:c.460G>A	ENSP00000496920.1:p.Asp154Asn
ENST00000648599.1:c.460G>A	ENSP00000497159.1:p.Asp154Asn
ENST00000648630.1:c.454G>A	ENSP00000497887.1:p.Asp152Asn
ENST00000648682.1:c.460G>A	ENSP00000498185.1:p.Asp154Asn
ENST00000648882.1:c.*286G>A	ENSP00000497603.1:n.*286G>A
ENST00000648890.1:c.460G>A	ENSP00000497503.1:p.Asp154Asn
ENST00000648915.2:c.460G>A MANE Select	ENSP00000497160.1:p.Asp154Asn
ENST00000649545.1:c.194G>A
ENST00000649688.1:c.460G>A	ENSP00000497097.1:p.Asp154Asn
ENST00000649814.1:n.509G>A
ENST00000650244.1:c.605G>A	ENSP00000497227.1:n.605G>A
ENST00000650270.1:c.327G>A
ENST00000273783.7:c.460G>A	ENSP00000273783.3:p.Asp154Asn
ENST00000432982.5:c.245+1084G>A
ENST00000444495.1:c.460G>A	ENSP00000409142.1:p.Asp154Asn
ENST00000481054.5:n.461G>A
ENST00000491008.5:n.424G>A
ENST00000491144.5:n.808G>A
ENST00000498831.1:n.415G>A
NM_003907.2:c.460G>A	NP_003898.2:p.Asp154Asn
XR_924208.1:n.1411G>A
NM_003907.3:c.460G>A MANE Select	NP_003898.2:p.Asp154Asn
XM_011513266.3:c.-442G>A	XP_011511568.1:n.-442G>A
XR_001740352.2:n.823G>A
XR_001740353.2:n.823G>A
XR_924208.2:n.823G>A